A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.
A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.
Members of the alpha-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 16. They include zeta-globin and alpha-globin. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. Adult HEMOGLOBIN is comprised of 2 alpha-globin chains and 2 beta-globin chains.
A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.
The number of RED BLOOD CELLS per unit volume in a sample of venous BLOOD.
The major component of hemoglobin in the fetus. This HEMOGLOBIN has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by LEUKEMIA and several types of ANEMIA.
A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.
Immature ERYTHROCYTES. In humans, these are ERYTHROID CELLS that have just undergone extrusion of their CELL NUCLEUS. They still contain some organelles that gradually decrease in number as the cells mature. RIBOSOMES are last to disappear. Certain staining techniques cause components of the ribosomes to precipitate into characteristic "reticulum" (not the same as the ENDOPLASMIC RETICULUM), hence the name reticulocytes.
An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations.
Therapy of heavy metal poisoning using agents which sequester the metal from organs or tissues and bind it firmly within the ring structure of a new compound which can be eliminated from the body.
An excessive accumulation of iron in the body due to a greater than normal absorption of iron from the gastrointestinal tract or from parenteral injection. This may arise from idiopathic hemochromatosis, excessive iron intake, chronic alcoholism, certain types of refractory anemia, or transfusional hemosiderosis. (From Churchill's Illustrated Medical Dictionary, 1989)
Organic chemicals that form two or more coordination links with an iron ion. Once coordination has occurred, the complex formed is called a chelate. The iron-binding porphyrin group of hemoglobin is an example of a metal chelate found in biological systems.
An adult hemoglobin component normally present in hemolysates from human erythrocytes in concentrations of about 3%. The hemoglobin is composed of two alpha chains and two delta chains. The percentage of HbA2 varies in some hematologic disorders, but is about double in beta-thalassemia.
The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed)
Natural product isolated from Streptomyces pilosus. It forms iron complexes and is used as a chelating agent, particularly in the mesylate form.
Pyridine derivatives with one or more keto groups on the ring.
Members of the beta-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 11. They include epsilon-globin, gamma-globin, delta-globin and beta-globin. There is also a pseudogene of beta (theta-beta) in the gene cluster. Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains.
A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.
Plasma glycoprotein member of the serpin superfamily which inhibits TRYPSIN; NEUTROPHIL ELASTASE; and other PROTEOLYTIC ENZYMES.
An abnormal hemoglobin composed of four beta chains. It is caused by the reduced synthesis of the alpha chain. This abnormality results in ALPHA-THALASSEMIA.
I'm sorry for any confusion, but "Sicily" is not a medical term that has a definition in the field of medicine. Sicily is actually the largest island in the Mediterranean Sea and it is located off the southern coast of Italy. If you have any questions related to medical terminology or health-related topics, I would be happy to help!
A group of abnormal hemoglobins with similar electrophoretic characteristics. They have faster electrophoretic mobility and different amino acid substitutions in either the alpha or beta chains than normal adult hemoglobin. Some of the variants produce hematologic abnormalities, others result in no clinical disorders.
A metallic element with atomic symbol Fe, atomic number 26, and atomic weight 55.85. It is an essential constituent of HEMOGLOBINS; CYTOCHROMES; and IRON-BINDING PROTEINS. It plays a role in cellular redox reactions and in the transport of OXYGEN.
An individual in which both alleles at a given locus are identical.
Oxygen-carrying RED BLOOD CELLS in mammalian blood that are abnormal in structure or function.
One of the two major pharmacological subdivisions of adrenergic receptors that were originally defined by the relative potencies of various adrenergic compounds. The alpha receptors were initially described as excitatory receptors that post-junctionally stimulate SMOOTH MUSCLE contraction. However, further analysis has revealed a more complex picture involving several alpha receptor subtypes and their involvement in feedback regulation.
The condition of being heterozygous for hemoglobin S.
Iron-containing proteins that are widely distributed in animals, plants, and microorganisms. Their major function is to store IRON in a nontoxic bioavailable form. Each ferritin molecule consists of ferric iron in a hollow protein shell (APOFERRITINS) made of 24 subunits of various sequences depending on the species and tissue types.
An individual having different alleles at one or more loci regarding a specific character.
The oxygen-carrying proteins of ERYTHROCYTES. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements.
Hypoxia-inducible factor 1, alpha subunit is a basic helix-loop-helix transcription factor that is regulated by OXYGEN availability and is targeted for degradation by VHL TUMOR SUPPRESSOR PROTEIN.
Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.
ERYTHROCYTE size and HEMOGLOBIN content or concentration, usually derived from ERYTHROCYTE COUNT; BLOOD hemoglobin concentration; and HEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC).
Conditions in which there is a generalized increase in the iron stores of body tissues, particularly of liver and the MONONUCLEAR PHAGOCYTE SYSTEM, without demonstrable tissue damage. The name refers to the presence of stainable iron in the tissue in the form of hemosiderin.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HEMOGLOBIN A2, a minor component of adult hemoglobin monitored in the diagnosis of BETA-THALASSEMIA.
The production of red blood cells (ERYTHROCYTES). In humans, erythrocytes are produced by the YOLK SAC in the first trimester; by the liver in the second trimester; by the BONE MARROW in the third trimester and after birth. In normal individuals, the erythrocyte count in the peripheral blood remains relatively constant implying a balance between the rate of erythrocyte production and rate of destruction.
Measurement of hemoglobin concentration in blood.
A member of the NICOTINIC ACETYLCHOLINE RECEPTOR subfamily of the LIGAND-GATED ION CHANNEL family. It consists entirely of pentameric a7 subunits expressed in the CNS, autonomic nervous system, vascular system, lymphocytes and spleen.
Surgical procedure involving either partial or entire removal of the spleen.
An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia.
Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Cell surface receptor for LAMININ, epiligrin, FIBRONECTINS, entactin, and COLLAGEN. Integrin alpha3beta1 is the major integrin present in EPITHELIAL CELLS, where it plays a role in the assembly of BASEMENT MEMBRANE as well as in cell migration, and may regulate the functions of other integrins. Two alternatively spliced isoforms of the alpha subunit (INTEGRIN ALPHA3), are differentially expressed in different cell types.
Abnormal accumulation of serous fluid in two or more fetal compartments, such as SKIN; PLEURA; PERICARDIUM; PLACENTA; PERITONEUM; AMNIOTIC FLUID. General fetal EDEMA may be of non-immunologic origin, or of immunologic origin as in the case of ERYTHROBLASTOSIS FETALIS.
The MEDITERRANEAN SEA, the MEDITERRANEAN ISLANDS, and the countries bordering on the sea collectively.

A complex haemoglobinopathy diagnosis in a family with both beta zero- and alpha (zero/+)-thalassaemia homozygosity. (1/248)

The occurrence of point mutation alpha-thalassaemia and of complex combinations of haemoglobin defects is underestimated. Haemoglobinopathies, the most frequent monogenic recessive autosomal disorder in man, occur predominantly in Mediterranean, African and Asiatic populations. However, countries of immigration with a low incidence in the indigenous population, are now confronted with a highly heterogeneous array of imported defects. Furthermore, the occurrence of severe phenotypes is bound to increase in the near future because of the endogamous growth of the ethnical minorities and the lack of prevention. We describe an Afghan family in which both partners of a consanguineous relationship are carriers of a beta- as well as an alpha-thalassaemia determinant. The combination of defects was revealed by the in vitro measurement of the beta/alpha biosynthetic ratio and was characterised at the DNA level. The molecular defects involved are the Cd5(-CT), a Mediterranean beta zero-thalassaemia mutation, and the alpha 2(zero/+)-thalassaemia AATA(-AA) polyadenylation defect. The alpha-thalassemia defect is a rare RNA-processing mutant described only twice before in heterozygous form in Asian-Indian patients. The mutation suppresses the expression of a alpha 2 gene and reduces the expression of the less efficient, 3' located alpha 1 gene as well, inducing a near alpha zero-thalassaemia phenotype. This defect is now described for the first time in the homozygous condition in one of the children who, in addition to being homozygous for the alpha-thalassaemia point mutation, is also a carrier of the beta zero-thalassaemia defect. A previously described homozygous case of the alpha (zero/+)-thalassaemia condition, caused by a similar polyadenylation defect, was characterised by a severe HbH disease. However, the patient described here present at 7 years of age with severe caries, like his beta-thalassaemia homozygous brother but without hepatosplenomegaly, haemolysis or severe anaemia. The haematological analysis revealed 9.5 g/dl Hb; 5.4 x 10(12)/I RBC; 0.33 I/I PCV; 61 fl MCV; 17.6 pg MCH and 6.2% of HbA2. The biosynthetic ratio beta:alpha was 1.6 and no HbH fraction was detectable either on electrophoresis or as inclusion bodies. The parents reported no complications during pregnancy, at birth, or in the neonatal period in rural Afghanistan. We presume therefore that the counterbalancing effect induced by the co-existing beta-thalassaemia defect could have modified a potentially severe perinatal HbH disease into a strongly hypochromic but well compensated 'alpha zero-like heterozygous' thalassaemia phenotype. The risk of a severe HbH disease, could have been easily missed in this family which was referred because of a child affected with beta-thalassaemia major.  (+info)

Cardiac blood flow studies in fetuses with homozygous alpha-thalassemia-1 at 12-13 weeks of gestation. (2/248)

OBJECTIVE: Fetuses affected by homozygous alpha-thalassemia-1 develop anemia as early as the first trimester. Our objective was to study hemodynamic indices in affected fetuses at 12-13 weeks of gestation to determine whether these would be useful in the prediction of anemia. DESIGN: Prospective observational study. SUBJECTS: Women referred before 14 weeks of gestation for the prenatal diagnosis of homozygous alpha-thalassemia-1. METHODS: Transabdominal and/or transvaginal Doppler sonography was performed to measure the flow velocities in the fetal ascending aorta and pulmonary artery at 12-13 weeks. The Doppler indices were compared between those that were subsequently confirmed to be affected by homozygous alpha-thalassemia-1 and those that were unaffected. RESULTS: Between June 1997 and April 1998, 60 eligible women were recruited. Doppler examination was successful in 58 fetuses. Of these, 22 were subsequently confirmed to be affected by homozygous alpha-thalassemia-1. The diagnosis was made by chorionic villus sampling and DNA analysis in two affected fetuses and by cordocentesis and hemoglobin evaluation in 20 affected fetuses. Hemoglobin concentrations could be measured in ten fetuses and these ranged from 4 to 8 g/dl. The affected fetuses had significantly higher peak velocities at the pulmonary valve and ascending aorta and a larger inner diameter of the pulmonary valve than that in unaffected fetuses. The total cardiac output was increased by one-third in affected fetuses and was mainly due to an increase of the right-side cardiac output. CONCLUSION: In the early stage of anemia, the fetus responds mainly by increasing its right-side cardiac output. However, there is extensive overlap of the values of cardiac output between the affected and the unaffected fetuses, precluding its use in the prediction of anemia.  (+info)

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome. (3/248)

We report on the evaluation of a strategy for screening for XNP/ATR-X mutations in males with mental retardation and associated dysmorphology. Because nearly half of the mutations in this gene reported to date fall into a short 300 bp region of the transcript, we decided to focus in this region and to extend the mutation analysis to cases with a negative family history. This study includes 21 mentally retarded male patients selected because they had severe mental retardation and a typical facial appearance. The presence of haemoglobin H or urogenital abnormalities was not considered critical for inclusion in this study. We have identified six mutations which represents a mutation detection rate of 28%. This figure is high enough for us to propose this strategy as a valid first level of screening in a selected subset of males with mental retardation. This approach is simple, does not require RNA preparation, does not involve time consuming mutation detection methods, and can thus be applied to a large number of patients at a low cost in any given laboratory.  (+info)

Intrathoracic extramedullary haematopoiesis complicated by massive haemothorax in alpha-thalassaemia. (4/248)

Intrathoracic extramedullary haematopoiesis (EMH) is a rare entity that is usually asymptomatic. A 44 year old man with alpha-thalassaemia is described who developed dyspnoea and massive left sided haemothorax. The haemoglobin disorder was established by Hgb H staining and haemoglobin electrophoretic studies. The DNA analysis revealed it to be a case of double heterozygous terminal codon mutation with the genotype alphaalphaCS/alphaalphaT. Computed tomographic scanning and magnetic resonance imaging of the thorax showed multiple paravertebral masses which were found by thoracoscopic biopsy to be extramedullary haematopoiesis. Although no additional sclerosing pleurodesis or low dose radiation therapy was given, the lung expanded well and there has been no recurrence of haemothorax to date.  (+info)

Impairment of Plasmodium falciparum growth in thalassemic red blood cells: further evidence by using biotin labeling and flow cytometry. (5/248)

Certain red blood cell (RBC) disorders, including thalassemia, have been associated with an innate protection against malaria infection. However, many in vitro correlative studies have been inconclusive. To better understand the relationship between human RBCs with thalassemia hemoglobinopathies and susceptibility to in vitro infection, we used an in vitro coculture system that involved biotin labeling and flow cytometry to study the ability of normal and variant RBC populations in supporting the growth of Plasmodium falciparum malaria parasites. Results showed that both normal and thalassemic RBCs were susceptible to P falciparum invasion, but the parasite multiplication rates were significantly reduced in the thalassemic RBC populations. The growth inhibition was especially marked in RBCs from alpha-thalassemia patients (both alpha-thalassemia1/alpha-thalassemia2 and alpha-thalassemia1 heterozygote). Our observations support the contention that thalassemia confers protection against malaria and may explain why it is more prevalent in malaria endemic areas.  (+info)

The contribution of alpha+-thalassaemia to anaemia in a Nigerian population exposed to intense malaria transmission. (6/248)

The proportion to which alpha-thalassaemia contributes to anaemia in Africa is not well recognized. In an area of intense malaria transmission in South-West Nigeria, haematological parameters of alpha-thalassaemia were examined in 494 children and 119 adults. The -alpha3.7 type of alpha+-thalassaemia was observed at a gene frequency of 0.27. Nine and 36.5% of individuals were homozygous and heterozygous, respectively. P.falciparum-infection was present in 78% of children and in 39% of adults. The alpha-globin genotypes did not correlate with the prevalence of P. falciparum-infection. alpha+-thalassaemic individuals had significantly lower mean values of haemoglobin, mean corpuscular volume, and mean corpuscular haemoglobin than non-thalassaemic subjects. Anaemia was seen in 54. 7% of children with a normal alpha-globin genotype, in 69.9% of heterozygous (odds ratio: 1.99, 95% confidence interval: 1.32-3.00, P = 0.001), and in 88.4% of homozygous alpha+-thalassaemic children (odds ratio: 7.72, 95% confidence interval: 2.85-20.90, P = 0.0001). The findings show that alpha+-thalassaemia contributes essentially to mild anaemia, microcytosis, and hypochromia in Nigeria.  (+info)

A normal beta-globin allele as a modifier gene ameliorating the severity of alpha-thalassemia in mice. (7/248)

Thalassemia is a heritable human anemia caused by a variety of mutations that affect expression of the alpha- or the beta-chain of hemoglobin. The expressivity of the phenotype is likely to be influenced by unlinked modifying genes. Indeed, by using a mouse model of alpha-thalassemia, we find that its phenotype is strongly influenced by the genetic background in which the alpha-thalassemia mutation resides [129(sv/ev)/129(sv/ev) (severe) or 129(sv/ev)/C57BL/6 (mild)]. Linkage mapping indicates that the modifying gene is very tightly linked to the beta-globin locus (Lod score = 13.3). Furthermore, the severity of the phenotype correlates with the size of beta-chain-containing inclusion bodies that accumulate in red blood cells and likely accelerate their destruction. The beta-major globin chains encoded by the two strains differ by three amino acids, one of which is a glycine-to-cysteine substitution at position 13. The Cys-13 should be available for interchain disulfide bridging and consequent aggregation between excess beta-chains. This normal polymorphic variation between murine beta-globin chains could account for the modifying action of the unlinked beta-globin locus. Here, the variation in severity of the phenotype would not depend on a change in the ratio between alpha- and beta-chains but on the chemical nature of the normal beta-chain, which is in excess. This work also indicates that modifying genes can be normal variants that-absent an apparent physiologic rationale-may be difficult to identify on the basis of structure alone.  (+info)

Nuchal translucency in fetuses affected by homozygous alpha-thalassemia-1 at 12-13 weeks of gestation. (8/248)

OBJECTIVE: Fetuses affected by homozygous alpha-thalassemia-1 are anemic in the first trimester. We studied their nuchal translucency (NT) measurements at 12-13 weeks of gestation. METHODS: Nuchal translucency was measured prospectively in fetuses at risk of homozygous alpha-thalassemia-1. Measurements of those fetuses subsequently confirmed to be affected by homozygous alpha-thalassemia-1 but with a normal karyotype were compared to those of 440 controls. The controls were from the general obstetric population who had NT measurements at 12 or 13 weeks with known normal outcome. All the NT measurements were expressed as multiples of the median (MoM) for the gestational day. RESULTS: Between 1996 and 1998, 94 at-risk pregnancies were studied. Of these, 32 were subsequently confirmed to be affected by homozygous alpha-thalassemia-1. Chromosome study was not carried out in three cases and these were excluded from the analysis. Nuchal translucency MoMs for cases and controls were found to fit a log Gaussian distribution. The log means (standard deviation) for case and control NT MoM were 0.075 (0.156) and -0.0019 (0.091), respectively. The median NT MoM (95% CI) for cases was 1.19 (1.08-1.62) and was significantly higher than that of the controls (p < 0.001). However, there was extensive overlap of NT between cases and controls. CONCLUSION: Overall, there was a 19% increase in NT MoM in fetuses affected by homozygous alpha-thalassemia-1. This represents a difference of only 0.3-0.4 mm, which is clinically insignificant. This finding indirectly suggests that the increased NT in trisomic fetuses cannot be explained by fetal anemia. Conversely, the presence of increased NT in a fetus at risk of homozygous alpha-thalassemia-1 should alert one to the possibility of chromosomal abnormality rather than being attributed to fetal anemia.  (+info)

Thalassemia is a group of inherited genetic disorders that affect the production of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. The disorder results in less efficient or abnormal hemoglobin, which can lead to anemia, an insufficient supply of oxygen-rich red blood cells.

There are two main types of Thalassemia: alpha and beta. Alpha thalassemia occurs when there is a problem with the alpha globin chain production, while beta thalassemia results from issues in beta globin chain synthesis. These disorders can range from mild to severe, depending on the number of genes affected and their specific mutations.

Severe forms of Thalassemia may require regular blood transfusions, iron chelation therapy, or even a bone marrow transplant to manage symptoms and prevent complications.

Alpha-thalassemia is a genetic disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. It is caused by deletions or mutations in the genes that produce the alpha-globin chains of hemoglobin.

There are several types of alpha-thalassemia, ranging from mild to severe. The most severe form, called hydrops fetalis, occurs when all four alpha-globin genes are deleted or mutated. This can cause stillbirth or death shortly after birth due to heart failure and severe anemia.

Less severe forms of alpha-thalassemia can cause mild to moderate anemia, which may be asymptomatic or associated with symptoms such as fatigue, weakness, and jaundice. These forms of the disorder are more common in people from Mediterranean, Southeast Asian, and African backgrounds.

Treatment for alpha-thalassemia depends on the severity of the condition and may include blood transfusions, iron chelation therapy, or occasionally stem cell transplantation.

Alpha-globins are a type of globin protein that combine to form the alpha-globin chains of hemoglobin, the oxygen-carrying protein in red blood cells. Hemoglobin is composed of four globin chains, two alpha-globin chains and two beta-globin chains, that surround a heme group. The alpha-globin genes are located on chromosome 16 and are essential for normal hemoglobin function. Mutations in the alpha-globin genes can lead to various forms of hemoglobin disorders such as alpha-thalassemia.

Globins are a group of proteins that contain a heme prosthetic group, which binds and transports oxygen in the blood. The most well-known globin is hemoglobin, which is found in red blood cells and is responsible for carrying oxygen from the lungs to the body's tissues. Other members of the globin family include myoglobin, which is found in muscle tissue and stores oxygen, and neuroglobin and cytoglobin, which are found in the brain and other organs and may have roles in protecting against oxidative stress and hypoxia (low oxygen levels). Globins share a similar structure, with a folded protein surrounding a central heme group. Mutations in globin genes can lead to various diseases, such as sickle cell anemia and thalassemia.

Hemoglobinopathies are a group of genetic disorders characterized by structural or functional abnormalities of the hemoglobin molecule in red blood cells. Hemoglobin is a complex protein that plays a crucial role in carrying oxygen throughout the body. The two most common types of hemoglobinopathies are sickle cell disease and thalassemia.

In sickle cell disease, a single mutation in the beta-globin gene results in the production of an abnormal form of hemoglobin called hemoglobin S (HbS). When deoxygenated, HbS molecules tend to aggregate and form long polymers, causing the red blood cells to become sickle-shaped, rigid, and fragile. These abnormally shaped cells can block small blood vessels, leading to tissue damage, chronic pain, organ dysfunction, and other serious complications.

Thalassemias are a heterogeneous group of disorders caused by mutations in the genes that regulate the production of alpha- or beta-globin chains. These mutations result in reduced or absent synthesis of one or more globin chains, leading to an imbalance in hemoglobin composition and structure. This imbalance can cause premature destruction of red blood cells (hemolysis), resulting in anemia, jaundice, splenomegaly, and other symptoms.

Hemoglobinopathies are typically inherited in an autosomal recessive manner, meaning that affected individuals have two copies of the abnormal gene – one from each parent. Carriers of a single abnormal gene usually do not show any signs or symptoms of the disorder but can pass the abnormal gene on to their offspring.

Early diagnosis and appropriate management of hemoglobinopathies are essential for improving quality of life, reducing complications, and increasing survival rates. Treatment options may include blood transfusions, iron chelation therapy, antibiotics, pain management, and, in some cases, bone marrow transplantation or gene therapy.

Abnormal hemoglobins refer to variants of the oxygen-carrying protein found in red blood cells, which differ from the normal adult hemoglobin (HbA) in terms of their structure and function. These variations can result from genetic mutations that affect the composition of the globin chains in the hemoglobin molecule. Some abnormal hemoglobins are clinically insignificant, while others can lead to various medical conditions such as hemolytic anemia, thalassemia, or sickle cell disease. Examples of abnormal hemoglobins include HbS (associated with sickle cell anemia), HbC, HbE, and HbF (fetal hemoglobin). These variants can be detected through specialized laboratory tests, such as hemoglobin electrophoresis or high-performance liquid chromatography (HPLC).

Erythrocyte count, also known as red blood cell (RBC) count, is a laboratory test that measures the number of red blood cells in a sample of blood. Red blood cells are important because they carry oxygen from the lungs to the rest of the body. A low erythrocyte count may indicate anemia, while a high count may be a sign of certain medical conditions such as polycythemia. The normal range for erythrocyte count varies depending on a person's age, sex, and other factors.

Fetal hemoglobin (HbF) is a type of hemoglobin that is produced in the fetus and newborn babies. It is composed of two alpha-like globin chains and two gamma-globin chains, designated as α2γ2. HbF is the primary form of hemoglobin during fetal development, replacing the embryonic hemoglobin (HbG) around the eighth week of gestation.

The unique property of HbF is its higher affinity for oxygen compared to adult hemoglobin (HbA), which helps ensure adequate oxygen supply from the mother to the developing fetus. After birth, as the newborn starts breathing on its own and begins to receive oxygen directly, the production of HbF gradually decreases and is usually replaced by HbA within the first year of life.

In some genetic disorders like sickle cell disease and beta-thalassemia, persistence of HbF into adulthood can be beneficial as it reduces the severity of symptoms due to its higher oxygen-carrying capacity and less polymerization tendency compared to HbS (in sickle cell disease) or unpaired alpha chains (in beta-thalassemia). Treatments like hydroxyurea are used to induce HbF production in these patients as a therapeutic approach.

Beta-thalassemia is a genetic blood disorder that affects the production of hemoglobin, a protein in red blood cells that carries oxygen throughout the body. Specifically, beta-thalassemia is caused by mutations in the beta-globin gene, which leads to reduced or absent production of the beta-globin component of hemoglobin.

There are two main types of beta-thalassemia:

1. Beta-thalassemia major (also known as Cooley's anemia): This is a severe form of the disorder that typically becomes apparent in early childhood. It is characterized by a significant reduction or absence of beta-globin production, leading to anemia, enlarged spleen and liver, jaundice, and growth retardation.
2. Beta-thalassemia intermedia: This is a milder form of the disorder that may not become apparent until later in childhood or even adulthood. It is characterized by a variable reduction in beta-globin production, leading to mild to moderate anemia and other symptoms that can range from nonexistent to severe.

Treatment for beta-thalassemia depends on the severity of the disorder and may include blood transfusions, iron chelation therapy, and/or bone marrow transplantation. In some cases, genetic counseling and prenatal diagnosis may also be recommended for families with a history of the disorder.

Reticulocytes are immature red blood cells that still contain remnants of organelles, such as ribosomes and mitochondria, which are typically found in developing cells. These organelles are involved in the process of protein synthesis and energy production, respectively. Reticulocytes are released from the bone marrow into the bloodstream, where they continue to mature into fully developed red blood cells called erythrocytes.

Reticulocytes can be identified under a microscope by their staining characteristics, which reveal a network of fine filaments or granules known as the reticular apparatus. This apparatus is composed of residual ribosomal RNA and other proteins that have not yet been completely eliminated during the maturation process.

The percentage of reticulocytes in the blood can be used as a measure of bone marrow function and erythropoiesis, or red blood cell production. An increased reticulocyte count may indicate an appropriate response to blood loss, hemolysis, or other conditions that cause anemia, while a decreased count may suggest impaired bone marrow function or a deficiency in erythropoietin, the hormone responsible for stimulating red blood cell production.

Hemoglobin E (HbE) is a structural variant of hemoglobin, which is the oxygen-carrying protein in red blood cells. This variant results from a specific mutation in the beta-globin gene, leading to the substitution of glutamic acid with lysine at position 26 of the beta-globin chain.

HbE is most commonly found in people from Southeast Asia, particularly in populations from Thailand, Cambodia, and Laos. It can also be found in other parts of the world, such as India, Bangladesh, and Pakistan. HbE is usually asymptomatic when it occurs in its heterozygous form (one normal beta-globin gene and one HbE gene). However, when it occurs in the homozygous form (two HbE genes), or in combination with other hemoglobinopathies like thalassemia, it can lead to a range of clinical manifestations, including mild to severe microcytic anemia, splenomegaly, and jaundice.

Individuals with HbE may have increased susceptibility to certain infections and may experience complications during pregnancy or surgery due to impaired oxygen-carrying capacity. Regular monitoring of hemoglobin levels, iron status, and potential complications is essential for managing individuals with Hemoglobin E effectively.

Chelation therapy is a medical treatment that involves the use of chelating agents to remove heavy metals and minerals from the body. A chelating agent is a molecule that bonds with the metal ions, forming a stable, water-soluble complex that can be excreted through urine or stool.

The most common chelating agent used in medical settings is ethylene diamine tetraacetic acid (EDTA), which is administered intravenously. EDTA binds with metals such as lead, mercury, iron, and calcium, and helps to eliminate them from the body.

Chelation therapy is primarily used to treat heavy metal poisoning, such as lead or mercury toxicity. It may also be used in some cases to treat cardiovascular disease, although its effectiveness for this use is still a matter of debate and controversy.

It's important to note that chelation therapy should only be administered under the supervision of a qualified healthcare professional, as improper use can lead to serious side effects and complications.

Iron overload is a condition characterized by an excessive accumulation of iron in the body's tissues and organs, particularly in the liver, heart, and pancreas. This occurs when the body absorbs more iron than it can use or eliminate, leading to iron levels that are higher than normal.

Iron overload can result from various factors, including hereditary hemochromatosis, a genetic disorder that affects how the body absorbs iron from food; frequent blood transfusions, which can cause iron buildup in people with certain chronic diseases such as sickle cell anemia or thalassemia; and excessive consumption of iron supplements or iron-rich foods.

Symptoms of iron overload may include fatigue, joint pain, abdominal discomfort, irregular heartbeat, and liver dysfunction. If left untreated, it can lead to serious complications such as cirrhosis, liver failure, diabetes, heart problems, and even certain types of cancer. Treatment typically involves regular phlebotomy (removal of blood) to reduce iron levels in the body, along with dietary modifications and monitoring by a healthcare professional.

Iron chelating agents are medications that bind to iron in the body, forming a stable complex that can then be excreted from the body. These agents are primarily used to treat iron overload, a condition that can occur due to frequent blood transfusions or certain genetic disorders such as hemochromatosis. By reducing the amount of iron in the body, these medications can help prevent or reduce damage to organs such as the heart and liver. Examples of iron chelating agents include deferoxamine, deferasirox, and deferiprone.

Hemoglobin A2 is a type of hemoglobin that is found in human red blood cells. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. Hemoglobin A2 is made up of two alpha-like globin chains and two delta-globin chains, and it accounts for approximately 1.5 to 3.5% of the total hemoglobin in adult humans.

Hemoglobin A2 is not normally present in significant amounts until after a child has passed through their first year of life. Its level remains relatively constant throughout adulthood, and it is often used as a diagnostic marker for certain types of anemia, such as beta-thalassemia. In people with beta-thalassemia, the production of beta-globin chains is reduced or absent, leading to an increase in the relative proportion of Hemoglobin A2 and Hemoglobin F (fetal hemoglobin) in the red blood cells.

It's important to note that Hemoglobin A2 measurement alone is not enough for a definitive diagnosis of beta-thalassemia, but it can be used as a supportive test along with other investigations such as complete blood count (CBC), hemoglobin electrophoresis and molecular genetic testing.

A blood transfusion is a medical procedure in which blood or its components are transferred from one individual (donor) to another (recipient) through a vein. The donated blood can be fresh whole blood, packed red blood cells, platelets, plasma, or cryoprecipitate, depending on the recipient's needs. Blood transfusions are performed to replace lost blood due to severe bleeding, treat anemia, support patients undergoing major surgeries, or manage various medical conditions such as hemophilia, thalassemia, and leukemia. The donated blood must be carefully cross-matched with the recipient's blood type to minimize the risk of transfusion reactions.

Deferoxamine is a medication used to treat iron overload, which can occur due to various reasons such as frequent blood transfusions or excessive iron intake. It works by binding to excess iron in the body and promoting its excretion through urine. This helps to prevent damage to organs such as the heart and liver that can be caused by high levels of iron.

Deferoxamine is an injectable medication that is typically administered intravenously or subcutaneously, depending on the specific regimen prescribed by a healthcare professional. It may also be used in combination with other medications to manage iron overload more effectively.

It's important to note that deferoxamine should only be used under the guidance of a medical professional, as improper use or dosing can lead to serious side effects or complications.

Pyridones are a class of organic compounds that contain a pyridone ring, which is a heterocyclic ring consisting of a six-membered ring with five carbon atoms and one nitrogen atom, with one oxygen atom attached to the nitrogen atom by a double bond. Pyridones can be found in various natural sources, including plants and microorganisms, and they also have important applications in the pharmaceutical industry as building blocks for drug design and synthesis. Some drugs that contain pyridone rings include antihistamines, anti-inflammatory agents, and antiviral agents.

Beta-globins are the type of globin proteins that make up the beta-chain of hemoglobin, the oxygen-carrying protein in red blood cells. Hemoglobin is composed of four polypeptide chains, two alpha-globin and two beta-globin chains, arranged in a specific structure. The beta-globin gene is located on chromosome 11, and mutations in this gene can lead to various forms of hemoglobin disorders such as sickle cell anemia and beta-thalassemia.

Sickle cell anemia is a genetic disorder that affects the hemoglobin in red blood cells. Hemoglobin is responsible for carrying oxygen throughout the body. In sickle cell anemia, the hemoglobin is abnormal and causes the red blood cells to take on a sickle shape, rather than the normal disc shape. These sickled cells are stiff and sticky, and they can block blood vessels, causing tissue damage and pain. They also die more quickly than normal red blood cells, leading to anemia.

People with sickle cell anemia often experience fatigue, chronic pain, and jaundice. They may also have a higher risk of infections and complications such as stroke, acute chest syndrome, and priapism. The disease is inherited from both parents, who must both be carriers of the sickle cell gene. It primarily affects people of African descent, but it can also affect people from other ethnic backgrounds.

There is no cure for sickle cell anemia, but treatments such as blood transfusions, medications to manage pain and prevent complications, and bone marrow transplantation can help improve quality of life for affected individuals. Regular medical care and monitoring are essential for managing the disease effectively.

Alpha 1-antitrypsin (AAT, or α1-antiproteinase, A1AP) is a protein that is primarily produced by the liver and released into the bloodstream. It belongs to a group of proteins called serine protease inhibitors, which help regulate inflammation and protect tissues from damage caused by enzymes involved in the immune response.

Alpha 1-antitrypsin is particularly important for protecting the lungs from damage caused by neutrophil elastase, an enzyme released by white blood cells called neutrophils during inflammation. In the lungs, AAT binds to and inhibits neutrophil elastase, preventing it from degrading the extracellular matrix and damaging lung tissue.

Deficiency in alpha 1-antitrypsin can lead to chronic obstructive pulmonary disease (COPD) and liver disease. The most common cause of AAT deficiency is a genetic mutation that results in abnormal folding and accumulation of the protein within liver cells, leading to reduced levels of functional AAT in the bloodstream. This condition is called alpha 1-antitrypsin deficiency (AATD) and can be inherited in an autosomal codominant manner. Individuals with severe AATD may require augmentation therapy with intravenous infusions of purified human AAT to help prevent lung damage.

Hemoglobin H (Hb H) is a type of abnormal hemoglobin that can occur in individuals with certain genetic disorders, such as hemoglobinopathies. It is formed when four beta-globin chains come together, instead of the usual two alpha and two beta chains found in normal adult hemoglobin (Hb A).

This abnormal structure can result from a mutation that causes the absence or deficiency of alpha-globin chains, leading to an excess of beta-globin chains. Hemoglobin H is often associated with conditions such as thalassemia, particularly when there is a severe deficiency of alpha-globin chain production (alpha-thalassemia).

Hemoglobin H can cause hemolytic anemia, which means that the red blood cells are destroyed prematurely. The severity of the condition depends on the degree of imbalance between alpha and beta chains and other genetic factors. Symptoms may include fatigue, jaundice, and splenomegaly (enlarged spleen).

I'm sorry for any confusion, but "Sicily" is not a medical term. It is actually a large island located in the Mediterranean Sea, south of the Italian Peninsula, and it is one of the five autonomous regions of Italy. If you have any questions about medical terminology or health-related topics, I would be happy to help!

Hemoglobin J is a variant form of hemoglobin, which is the oxygen-carrying protein in red blood cells. This variant is caused by a specific mutation in the gene for the beta-globin chain, one of the two types of chains that make up hemoglobin.

The mutation responsible for Hemoglobin J results in the substitution of a glutamic acid residue with a valine residue at position 6 of the beta-globin chain. This change can lead to the formation of abnormal hemoglobin molecules that can cause red blood cells to become fragile and susceptible to rupture, a condition known as hemolysis.

Hemoglobin J is typically detected during routine newborn screening or through diagnostic testing for hemoglobin disorders. While Hemoglobin J itself is not considered a disease-causing variant, individuals who inherit it in combination with other abnormal hemoglobin genes may be at risk for developing hemolytic anemia or other related conditions.

In the context of medicine, iron is an essential micromineral and key component of various proteins and enzymes. It plays a crucial role in oxygen transport, DNA synthesis, and energy production within the body. Iron exists in two main forms: heme and non-heme. Heme iron is derived from hemoglobin and myoglobin in animal products, while non-heme iron comes from plant sources and supplements.

The recommended daily allowance (RDA) for iron varies depending on age, sex, and life stage:

* For men aged 19-50 years, the RDA is 8 mg/day
* For women aged 19-50 years, the RDA is 18 mg/day
* During pregnancy, the RDA increases to 27 mg/day
* During lactation, the RDA for breastfeeding mothers is 9 mg/day

Iron deficiency can lead to anemia, characterized by fatigue, weakness, and shortness of breath. Excessive iron intake may result in iron overload, causing damage to organs such as the liver and heart. Balanced iron levels are essential for maintaining optimal health.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

Abnormal erythrocytes refer to red blood cells that have an abnormal shape, size, or other characteristics. This can include various types of abnormalities such as:

1. Anisocytosis: Variation in the size of erythrocytes.
2. Poikilocytosis: Variation in the shape of erythrocytes, including but not limited to teardrop-shaped cells (dacrocytes), crescent-shaped cells (sickle cells), and spherical cells (spherocytes).
3. Anemia: A decrease in the total number of erythrocytes or a reduction in hemoglobin concentration, which can result from various underlying conditions such as iron deficiency, chronic disease, or blood loss.
4. Hemoglobinopathies: Abnormalities in the structure or function of hemoglobin, the protein responsible for carrying oxygen in erythrocytes, such as sickle cell anemia and thalassemia.
5. Inclusion bodies: Abnormal structures within erythrocytes, such as Heinz bodies (denatured hemoglobin) or Howell-Jolly bodies (nuclear remnants).

These abnormalities can be detected through a complete blood count (CBC) and peripheral blood smear examination. The presence of abnormal erythrocytes may indicate an underlying medical condition, and further evaluation is often necessary to determine the cause and appropriate treatment.

Adrenergic receptors are a type of G protein-coupled receptor that bind and respond to catecholamines, such as epinephrine (adrenaline) and norepinephrine (noradrenaline). Alpha adrenergic receptors (α-ARs) are a subtype of adrenergic receptors that are classified into two main categories: α1-ARs and α2-ARs.

The activation of α1-ARs leads to the activation of phospholipase C, which results in an increase in intracellular calcium levels and the activation of various signaling pathways that mediate diverse physiological responses such as vasoconstriction, smooth muscle contraction, and cell proliferation.

On the other hand, α2-ARs are primarily located on presynaptic nerve terminals where they function to inhibit the release of neurotransmitters, including norepinephrine. The activation of α2-ARs also leads to the inhibition of adenylyl cyclase and a decrease in intracellular cAMP levels, which can mediate various physiological responses such as sedation, analgesia, and hypotension.

Overall, α-ARs play important roles in regulating various physiological functions, including cardiovascular function, mood, and cognition, and are also involved in the pathophysiology of several diseases, such as hypertension, heart failure, and neurodegenerative disorders.

Sickle cell trait is a genetic condition where an individual inherits one abnormal gene for hemoglobin S (HbS) from one parent and one normal gene for hemoglobin A (HbA) from the other parent. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body.

People with sickle cell trait do not have sickle cell disease, but they can pass the abnormal HbS gene on to their children. In certain situations, such as high altitude, low oxygen levels, or intense physical exertion, individuals with sickle cell trait may experience symptoms similar to those of sickle cell disease, such as fatigue, pain, and shortness of breath. However, these symptoms are typically milder and less frequent than in people with sickle cell disease.

It is important for individuals who know they have sickle cell trait to inform their healthcare providers, especially if they become pregnant or plan to engage in activities that may cause low oxygen levels, such as scuba diving or high-altitude climbing.

Ferritin is a protein in iron-metabolizing cells that stores iron in a water-soluble form. It is found inside the cells (intracellular) and is released into the bloodstream when the cells break down or die. Measuring the level of ferritin in the blood can help determine the amount of iron stored in the body. High levels of ferritin may indicate hemochromatosis, inflammation, liver disease, or other conditions. Low levels of ferritin may indicate anemia, iron deficiency, or other conditions.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Hemoglobin (Hb or Hgb) is the main oxygen-carrying protein in the red blood cells, which are responsible for delivering oxygen throughout the body. It is a complex molecule made up of four globin proteins and four heme groups. Each heme group contains an iron atom that binds to one molecule of oxygen. Hemoglobin plays a crucial role in the transport of oxygen from the lungs to the body's tissues, and also helps to carry carbon dioxide back to the lungs for exhalation.

There are several types of hemoglobin present in the human body, including:

* Hemoglobin A (HbA): This is the most common type of hemoglobin, making up about 95-98% of total hemoglobin in adults. It consists of two alpha and two beta globin chains.
* Hemoglobin A2 (HbA2): This makes up about 1.5-3.5% of total hemoglobin in adults. It consists of two alpha and two delta globin chains.
* Hemoglobin F (HbF): This is the main type of hemoglobin present in fetal life, but it persists at low levels in adults. It consists of two alpha and two gamma globin chains.
* Hemoglobin S (HbS): This is an abnormal form of hemoglobin that can cause sickle cell disease when it occurs in the homozygous state (i.e., both copies of the gene are affected). It results from a single amino acid substitution in the beta globin chain.
* Hemoglobin C (HbC): This is another abnormal form of hemoglobin that can cause mild to moderate hemolytic anemia when it occurs in the homozygous state. It results from a different single amino acid substitution in the beta globin chain than HbS.

Abnormal forms of hemoglobin, such as HbS and HbC, can lead to various clinical disorders, including sickle cell disease, thalassemia, and other hemoglobinopathies.

Hypoxia-Inducible Factor 1 (HIF-1) is a transcription factor that plays a crucial role in the body's response to low oxygen levels, also known as hypoxia. HIF-1 is a heterodimeric protein composed of two subunits: an alpha subunit (HIF-1α) and a beta subunit (HIF-1β).

The alpha subunit, HIF-1α, is the regulatory subunit that is subject to oxygen-dependent degradation. Under normal oxygen conditions (normoxia), HIF-1α is constantly produced in the cell but is rapidly degraded by proteasomes due to hydroxylation of specific proline residues by prolyl hydroxylase domain-containing proteins (PHDs). This hydroxylation reaction requires oxygen as a substrate, and under hypoxic conditions, the activity of PHDs is inhibited, leading to the stabilization and accumulation of HIF-1α.

Once stabilized, HIF-1α translocates to the nucleus, where it heterodimerizes with HIF-1β and binds to hypoxia-responsive elements (HREs) in the promoter regions of target genes. This binding results in the activation of gene transcription programs that promote cellular adaptation to low oxygen levels. These adaptive responses include increased erythropoiesis, angiogenesis, glucose metabolism, and pH regulation, among others.

Therefore, HIF-1α is a critical regulator of the body's response to hypoxia, and its dysregulation has been implicated in various pathological conditions, including cancer, cardiovascular disease, and neurodegenerative disorders.

Hemoglobin A is the most common form of hemoglobin, which is the oxygen-carrying protein in red blood cells. Hemoglobin A is a tetramer composed of two alpha and two beta globin chains, each containing a heme group that binds to oxygen. It is typically measured in laboratory tests to assess for various medical conditions such as anemia or diabetes. In the context of diabetes, the measurement of hemoglobin A1c (a form of hemoglobin A that is glycated or bound to glucose) is used to monitor long-term blood sugar control.

Erythrocyte indices are a set of calculated values that provide information about the size and hemoglobin content of red blood cells (erythrocytes). These indices are commonly used in the complete blood count (CBC) test to help diagnose various types of anemia and other conditions affecting the red blood cells.

The three main erythrocyte indices are:

1. Mean Corpuscular Volume (MCV): This is the average volume of a single red blood cell, measured in femtoliters (fL). MCV helps to differentiate between microcytic, normocytic, and macrocytic anemia. Microcytic anemia is characterized by low MCV values (100 fL).
2. Mean Corpuscular Hemoglobin (MCH): This is the average amount of hemoglobin present in a single red blood cell, measured in picograms (pg). MCH helps to assess the oxygen-carrying capacity of red blood cells. Low MCH values may indicate hypochromic anemia, where the red blood cells have reduced hemoglobin content.
3. Mean Corpuscular Hemoglobin Concentration (MCHC): This is the average concentration of hemoglobin in a single red blood cell, measured as a percentage. MCHC reflects the hemoglobin concentration relative to the size of the red blood cells. Low MCHC values may indicate hypochromic anemia, while high MCHC values could suggest spherocytosis or other conditions affecting red blood cell shape and integrity.

These erythrocyte indices are calculated based on the red blood cell count, hemoglobin concentration, and hematocrit results obtained from a CBC test. They provide valuable information for healthcare professionals to diagnose and manage various hematological conditions.

Hemosiderosis is a medical condition characterized by the abnormal accumulation of hemosiderin, an iron-containing protein, in various organs and tissues of the body. Hemosiderin is derived from the breakdown of hemoglobin, which is the oxygen-carrying protein in red blood cells. When there is excessive breakdown of red blood cells or impaired clearance of hemosiderin, it can lead to its accumulation in organs such as the liver, spleen, and lungs.

Hemosiderosis can be classified into two types: primary and secondary. Primary hemosiderosis is a rare condition that is caused by genetic disorders affecting red blood cells, while secondary hemosiderosis is more common and is associated with various conditions that cause excessive breakdown of red blood cells or chronic inflammation. These conditions include hemolytic anemias, repeated blood transfusions, liver diseases, infections, and certain autoimmune disorders.

The accumulation of hemosiderin can lead to tissue damage and organ dysfunction, particularly in the lungs, where it can cause pulmonary fibrosis, and in the heart, where it can lead to heart failure. Hemosiderosis is typically diagnosed through a combination of medical history, physical examination, and laboratory tests, including blood tests and imaging studies such as chest X-rays or MRI scans. Treatment of hemosiderosis depends on the underlying cause and may include medications, blood transfusions, or supportive care to manage symptoms and prevent complications.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

Delta-thalassemia is a type of thalassemia, which is an inherited blood disorder that affects the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. In delta-thalassemia, there is a mutation or deletion in the gene that produces the delta-globin chain, which is one of the four chains that make up the adult hemoglobin molecule (HbA).

There are two types of delta-thalassemia:

1. Delta-thalassemia minor: This type of delta-thalassemia occurs when a person inherits one mutated or deleted delta-globin gene from one parent and one normal gene from the other parent. People with delta-thalassemia minor usually have mild anemia, which may not cause any symptoms.
2. Delta-thalassemia major: This type of delta-thalassemia occurs when a person inherits two mutated or deleted delta-globin genes, one from each parent. People with delta-thalassemia major have severe anemia and other complications, such as bone deformities, enlarged spleen, and growth retardation. They may require regular blood transfusions to manage their anemia.

Delta-thalassemia can also occur in combination with other types of thalassemia, such as beta-thalassemia, which can further complicate the clinical picture. Treatment for delta-thalassemia depends on the severity of the condition and may include blood transfusions, iron chelation therapy, and occasionally bone marrow transplantation.

Erythropoiesis is the process of forming and developing red blood cells (erythrocytes) in the body. It occurs in the bone marrow and is regulated by the hormone erythropoietin (EPO), which is produced by the kidneys. Erythropoiesis involves the differentiation and maturation of immature red blood cell precursors called erythroblasts into mature red blood cells, which are responsible for carrying oxygen to the body's tissues. Disorders that affect erythropoiesis can lead to anemia or other blood-related conditions.

Hemoglobinometry is a method used to measure the amount or concentration of hemoglobin (Hb) in blood. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. Hemoglobinometry is typically performed on a sample of whole blood and can be done using various methods, including spectrophotometry, colorimetry, or automated analyzers.

The results of hemoglobinometry are reported in units of grams per deciliter (g/dL) or grams per liter (g/L). Normal values for hemoglobin concentration vary depending on factors such as age, sex, and altitude, but in general, a healthy adult male should have a hemoglobin level between 13.5 and 17.5 g/dL, while a healthy adult female should have a level between 12.0 and 15.5 g/dL.

Hemoglobinometry is an important diagnostic tool in the evaluation of various medical conditions, including anemia, polycythemia, and respiratory disorders. It can help identify the cause of symptoms such as fatigue, shortness of breath, or dizziness and guide treatment decisions.

The alpha7 nicotinic acetylcholine receptor (α7nAChR) is a type of cholinergic receptor found in the nervous system that is activated by the neurotransmitter acetylcholine. It is a ligand-gated ion channel that is widely distributed throughout the central and peripheral nervous systems, including in the hippocampus, cortex, thalamus, and autonomic ganglia.

The α7nAChR is composed of five subunits arranged around a central pore, and it has a high permeability to calcium ions (Ca2+). When acetylcholine binds to the receptor, it triggers a conformational change that opens the ion channel, allowing Ca2+ to flow into the cell. This influx of Ca2+ can activate various intracellular signaling pathways and have excitatory or inhibitory effects on neuronal activity, depending on the location and function of the receptor.

The α7nAChR has been implicated in a variety of physiological processes, including learning and memory, attention, sensory perception, and motor control. It has also been studied as a potential therapeutic target for various neurological and psychiatric disorders, such as Alzheimer's disease, schizophrenia, and pain.

A splenectomy is a surgical procedure in which the spleen is removed from the body. The spleen is an organ located in the upper left quadrant of the abdomen, near the stomach and behind the ribs. It plays several important roles in the body, including fighting certain types of infections, removing old or damaged red blood cells from the circulation, and storing platelets and white blood cells.

There are several reasons why a splenectomy may be necessary, including:

* Trauma to the spleen that cannot be repaired
* Certain types of cancer, such as Hodgkin's lymphoma or non-Hodgkin's lymphoma
* Sickle cell disease, which can cause the spleen to enlarge and become damaged
* A ruptured spleen, which can be life-threatening if not treated promptly
* Certain blood disorders, such as idiopathic thrombocytopenic purpura (ITP) or hemolytic anemia

A splenectomy is typically performed under general anesthesia and may be done using open surgery or laparoscopically. After the spleen is removed, the incision(s) are closed with sutures or staples. Recovery time varies depending on the individual and the type of surgery performed, but most people are able to return to their normal activities within a few weeks.

It's important to note that following a splenectomy, individuals may be at increased risk for certain types of infections, so it's recommended that they receive vaccinations to help protect against these infections. They should also seek medical attention promptly if they develop fever, chills, or other signs of infection.

Hemoglobin S (HbS) is a genetic variant of hemoglobin, which is the oxygen-carrying protein in red blood cells. This abnormal form of hemogllobin results from a mutation in the beta-globin gene, leading to the substitution of valine for glutamic acid at position six of the beta-globin chain.

In individuals with sickle cell disease (a group of inherited red blood cell disorders), both copies of their beta-globin genes carry this mutation, causing the majority of their hemoglobin to be HbS. When deoxygenated, HbS molecules have a tendency to polymerize and form long, rigid rods within the red blood cells, distorting their shape into a characteristic sickle or crescent form.

These sickled red blood cells are less flexible and more prone to rupture (hemolysis), leading to chronic anemia, vaso-occlusive crises, and other disease complications. Sickle cell disease primarily affects people of African, Mediterranean, Middle Eastern, and Indian ancestry, but it can also be found in other populations worldwide.

Erythrocytes, also known as red blood cells (RBCs), are the most common type of blood cell in circulating blood in mammals. They are responsible for transporting oxygen from the lungs to the body's tissues and carbon dioxide from the tissues to the lungs.

Erythrocytes are formed in the bone marrow and have a biconcave shape, which allows them to fold and bend easily as they pass through narrow blood vessels. They do not have a nucleus or mitochondria, which makes them more flexible but also limits their ability to reproduce or repair themselves.

In humans, erythrocytes are typically disc-shaped and measure about 7 micrometers in diameter. They contain the protein hemoglobin, which binds to oxygen and gives blood its red color. The lifespan of an erythrocyte is approximately 120 days, after which it is broken down in the liver and spleen.

Abnormalities in erythrocyte count or function can lead to various medical conditions, such as anemia, polycythemia, and sickle cell disease.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Integrin α3β1 is a type of cell surface receptor that is widely expressed in various tissues, including epithelial and endothelial cells. It is composed of two subunits, α3 and β1, which form a heterodimeric complex that plays a crucial role in cell-matrix adhesion and signaling.

Integrin α3β1 binds to several extracellular matrix proteins, such as laminin, fibronectin, and collagen IV, and mediates various cellular functions, including cell migration, proliferation, differentiation, and survival. It also participates in intracellular signaling pathways that regulate cell behavior and tissue homeostasis.

Mutations in the genes encoding integrin α3β1 have been associated with several human diseases, including blistering skin disorders, kidney disease, and cancer. Therefore, understanding the structure, function, and regulation of integrin α3β1 is essential for developing new therapeutic strategies to treat these conditions.

Hydrops Fetalis is a serious condition characterized by the accumulation of excessive fluid in two or more fetal compartments, including the abdomen (ascites), around the heart (pericardial effusion), and/or within the lungs (pleural effusion). This accumulation can also affect the skin, causing it to become edematous. Hydrops Fetalis is often associated with various underlying causes, such as chromosomal abnormalities, congenital infections, genetic disorders, and structural defects that impair the fetus's ability to maintain fluid balance. In some cases, the cause may remain unknown. The prognosis for Hydrops Fetalis is generally poor, with a high mortality rate, although early detection and appropriate management can improve outcomes in certain situations.

I'm sorry for any confusion, but "Mediterranean Region" is not a term with a specific medical definition. The Mediterranean Region typically refers to the geographical area surrounding the Mediterranean Sea, including countries in Southern Europe, North Africa, and Western Asia. However, in a medical context, it might refer to the study of diseases or health characteristics typical of certain populations in this region. For example, the "Mediterranean diet" is a popular term in nutrition and medicine, referring to the traditional eating habits in Mediterranean countries, which are associated with numerous health benefits. If you're looking for medical information related to a specific aspect of the Mediterranean Region or its population, please provide more context so I can give you a more accurate response.

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Thalassemias are genetic disorders. There are two main types, alpha thalassemia and beta thalassemia. The severity of alpha and ... Hemoglobin-Alpha locus 2; HBA2 - 141850 Galanello, Renzo; Cao, Antonio (5 January 2011). "Alpha-thalassemia". Genetics in ... Herbert l. Muncie, Jr; Campbell, James S. (15 August 2009). "Alpha and Beta Thalassemia". American Family Physician. 80 (4): ... Thalassemias are inherited blood disorders that result in abnormal hemoglobin. Symptoms depend on the type of thalassemia and ...
Alpha thalassemia Beta-thalassemia Hemoglobinopathy "Delta-beta-thalassemia". Orphanet. Orphanet. Retrieved 16 September 2016 ... Delta-beta thalassemia can mask the diagnosis of beta thalassemia trait. In beta thalassemia, an increase in hemoglobin A2 ... Delta-beta thalassemia is a rare form of thalassemia in which there is a reduced production of hemoglobin subunit delta and ... Delta-beta thalassemia is considered rare. Delta-beta-thalassemia is caused by deletions of the entire delta and beta genes ...
"alpha thalassemia". Genetics Home Reference. NIH U.S. National Library of Medicine. 14 November 2017. Whetstine JR (2010). " ... In a class of alpha-thalassemia, a type of blood disorder that has reduced level of hemoglobin leading to insufficient oxygen ...
Alpha-thalassemia. Normal adult hemoglobin is composed of two alpha and two beta chains. Alpha thalassemia patients have ... partial or complete defects in alpha globin production, leading to a relative abundance of beta globin chains in the cell. ...
NKX2E Thalassemia, alpha-; 604131; HBA2 Thalassemia, Hispanic gamma-delta-beta; 604131; LCRB Thalassemia-beta, dominant ... OGDH Alpha-methylacetoacetic aciduria; 203750; ACAT1 Alpha-thalassemia myelodysplasia syndrome, somatic; 300448; ATRX Alpha- ... inclusion-body; 603902; HBB Thalassemias, alpha-; 604131; HBA1 Thalassemias, beta-; 604131; HBB Thanatophoric dysplasia, type I ... NLRP3 Mucolipidosis II alpha/beta; 252500; GNPTAB Mucolipidosis III alpha/beta; 252600; GNPTAB Mucolipidosis III gamma; 252605 ...
"Alpha and beta thalassemia". American Family Physician. 80 (4): 339-44. PMID 19678601. "Beta thalassemia". Genetics Home ... Beta thalassemia is an inherited genetic mutation in one (Beta thalassemia minor) or both (Beta thalassemia major) of the Beta ... Beta thalassemia major occurs when a person inherits two abnormal alleles. This can be either two β+ alleles, two β0 alleles, ... Beta thalassemia minor occurs when an individual inherits one normal Beta allele and one abnormal Beta allele (either β0, or β+ ...
... making the baby a silent alpha thalassemia carrier, two alpha globin gene deletions (alpha thalassemia), or hemoglobin H ... "Pathophysiology of alpha thalassemia". www.uptodate.com. Retrieved 2016-08-30. van der Dijs FP, Volmer M, van Gijssel-Wiersma ... It is produced in the disease alpha-thalassemia and in the most severe of cases, it is the only form of hemoglobin in ... It is also cheap and easy, making regular screening for alpha-thalassemia a plausible possibility. Anemia is a factor in ...
Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked intellectual disability syndrome, ... GeneReviews/NCBI/NIH/UW entry on Alpha-Thalassemia X-Linked Mental Retardation Syndrome; ATRX Syndrome; Alpha Thalassemia/ ... For example, ATRX mutations affect the expression of alpha-globin gene cluster, causing alpha-thalassemia." ATRX interacts with ... Mild or moderate anemia, associated with alpha-thalassemia, is part of the condition. Females with this mutated gene have no ...
GeneReviews/NCBI/NIH/UW entry on Alpha-Thalassemia X-Linked Mental Retardation Syndrome; ATRX Syndrome; Alpha Thalassemia/ ... "Entrez Gene: ATRX alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)". Wong LH, McGhie JD, ... Gibbons RJ, Suthers GK, Wilkie AO, Buckle VJ, Higgs DR (November 1992). "X-linked alpha-thalassemia/mental retardation (ATR-X) ... Alpha-thalassemia mental retardation syndrome GRCh38: Ensembl release 89: ENSG00000085224 - Ensembl, May 2017 GRCm38: Ensembl ...
GeneCard for CXorf26 Aceview Gene Annotation Stevenson RE (2000). "Alpha-Thalassemia X-Linked Intellectual Disability Syndrome ... and when mutated causes an X-linked mental retardation syndrome along with alpha thalassemia syndrome; both are known to cause ... Conservation of the domain is especially high in areas which include one of the multiple alpha helices or beta sheets. There ... Experimental evidence in the yeast homolog shows 4 alpha helices and 2 beta sheets all in the polysaccharide domain, just as ...
Alpha thalassemia X-linked syndrome, which can be caused by hypomethylation in certain repeat sequences. Symptoms include ... "Alpha Thalassemia X-Linked Intellectual Disability Syndrome". Genetics Home Reference. US National Library of Medicine. April ... Symptoms include intellectual impairment and alpha thalassemia. Cancerous stem cells, caused by misregulation of polycomb ...
Severely anemic fetuses, including those with Rh disease and alpha thalassemia major, can be treated with blood transfusions ... Vichinsky EP (2009-01-01). "Alpha thalassemia major--new mutations, intrauterine management, and outcomes". Hematology. ... Maternal syphilis and maternal diabetes mellitus Alpha-thalassemia can also cause hydrops fetalis when all four of the genetic ...
Alpha-thalassemias most commonly result from deletions of any of the four alpha alleles, although some alpha thalassemias have ... GeneReviews/NCBI/NIH/UW entry on Alpha-Thalassemia OMIM entries on Alpha-Thalassemia This article incorporates text from the ... Hemoglobin, alpha 2 also known as HBA2 is a gene that in humans codes for the alpha globin chain of hemoglobin. The human alpha ... Ribeiro DM, Sonati MF (2008). "Regulation of human alpha-globin gene expression and alpha-thalassemia". Genetics and Molecular ...
Alpha thalassemia is usually self-limiting, but in some cases may require a blood transfusion or chelating treatment. The ... People with ATR-16 have alpha-thalassemia, a blood disorder where there is less normal hemoglobin in the blood than there ... "Orphanet: Alpha thalassemia intellectual disability syndrome linked to chromosome 16 ATR 16 syndrome". www.orpha.net. Retrieved ... "OMIM Entry - # 141750 - ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED". omim.org. Retrieved 2015-10-28 ...
The main types of thalassemia are alpha-thalassemia and beta thalassemia. The two conditions may overlap because some ... Throughout life, the synthesis of the alpha-like and the beta-like (also called non-alpha-like) chains is balanced so that ... The specific alpha and beta-like chains that are incorporated into Hb are highly regulated during development:[citation needed ... Normal human hemoglobins are tetrameric proteins composed of two pairs of globin chains, each of which contains one alpha-like ...
GeneReviews/NCBI/NIH/UW entry on Alpha-Thalassemia OMIM entries on Alpha-Thalassemia Overview of all the structural information ... 2007). "Molecular assay of -alpha(3.7) and -alpha(4.2) deletions causing alpha-thalassemia by denaturing high-performance ... alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1; this gene) coding sequences are identical. These genes ... Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some ...
... a form of alpha-thalassemia, an abnormal band of hemoglobin H can be detected, and sometimes a band of Hemoglobin Barts; but in ... In beta-thalassemia major, hemoglobin A is decreased (or in some cases absent) and hemoglobin F is markedly elevated; A2 levels ... the milder alpha-thalassemia trait, electrophoresis results are effectively normal. Linus Pauling is credited with the ... Hemoglobin A2 levels are typically elevated in beta-thalassemia minor and hemoglobin F may be slightly increased. ...
Alpha-thalassemia (α-thalassemia) is defined by a lack of α-globin chain production in hemoglobin, and those who carry a ... One of the chains is an alpha chain and the other is a non-alpha chain. Non-alpha chain nature in hemoglobin molecules varies ... The beta chain will pair with the alpha chain. It is the combining of two alpha and non-alpha chains which create a hemoglobin ... are diagnosed with β-thalassemia or intermedia. Due to the lack of beta-globin, accumulation of alpha-globin subunits and alpha ...
... major is usually fatal in infancy if blood transfusions are not initiated immediately. Alpha-thalassemia ... Beta thalassemiasthalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or ... Beta thalassemia trait (also known as beta thalassemia minor) involves heterozygous inheritance of a beta-thalassemia mutation ... Three main forms have been described: thalassemia minor, thalassemia intermedia, and thalassemia major which vary from ...
2006). "Role of alpha-hemoglobin-stabilizing protein in normal erythropoiesis and beta-thalassemia". Ann. N. Y. Acad. Sci. 1054 ... 2004). "Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia". ... 2002). "Biophysical characterization of the alpha-globin binding protein alpha-hemoglobin stabilizing protein". J. Biol. Chem. ... 2007). "Reversible hexacoordination of alpha-hemoglobin-stabilizing protein (AHSP)/alpha-hemoglobin Versus pressure. Evidence ...
He became interested in thalassemia after attending to an infant with alpha-thalassemia. After the fellowship, Kan briefly ... Then, building on his finding that alpha-thalassemia was caused by a gene deletion, he designed a DNA-based test for the ... Kan and his collaborators found the deletion of a gene was the cause of alpha-thalassemia, the first demonstration of its kind ... "Gene deletion as the cause of α thalassaemia: Genetic lesion in homozygous α thalassaemia (hydrops fetalis)". Nature. 251 (5474 ...
It is the most common nondeletional alpha-thalassemia mutation associated with hemoglobin H disease. The quantity of hemoglobin ... Hemoglobin Constant Spring is a variant of hemoglobin in which a mutation in the alpha globin gene produces an alpha globin ... Hemoglobin variants Hemoglobinopathy Thalassemia What is Thalassemia? Hemoglobin H Disease and its Variants Hemoglobinopathiesm ... Another reason is that the Constant Spring alpha chain protein is itself unstable. The result is a thalassemic phenotype. ...
Globin synthesis defect sickle cell disease Alpha-thalassemia, e.g. HbH disease Systemic conditions Sepsis Arteriovenous ... The breast-milk of some women contains a metabolite of progesterone called 3-alpha-20-beta pregnanediol. This substance ... alpha), 20(beta)-diol in maternal milk that inhibits glucuronide formation in vitro". J Clin Invest. 43 (11): 2037-47. doi: ... alpha 1-antitrypsin deficiency, and other pediatric liver diseases should be considered. The evaluation for these will include ...
Near Fixation of the Alpha Thalassemia Gene in a Nepalese Population". American Journal of Human Genetics. 48 (2): 390-397. PMC ... This was confirmed by follow-up investigation finding genes for thalassemia in nearly all Tharu studied. Tharu people have ...
Orkin SH, Michelson A (July 1980). "Partial deletion of the alpha-globin structural gene in human alpha-thalassaemia". Nature. ... The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta1 - 3'. GRCh38: Ensembl release ... Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while ... The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes ...
Orkin SH, Michelson A (1980). "Partial deletion of the alpha-globin structural gene in human alpha-thalassaemia". Nature. 286 ( ... Proudfoot NJ, Maniatis T (1980). "The structure of a human alpha-globin pseudogene and its relationship to alpha-globin gene ... Hemoglobin, alpha pseudogene 1, also known as HBAP1, is a human gene. GRCh38: Ensembl release 89: ENSG00000225323 - Ensembl, ... Safaya S, Rieder RF (1988). "Dysfunctional alpha-globin gene in hemoglobin H disease in blacks. A dinucleotide deletion ...
"Alpha thalassemia". Genetics Home Reference. U.S. National Library of Medicine. February 27, 2011. Retrieved 3 March 2011. " ... "Beta thalassemia". Genetics Home Reference. U.S. National Library of Medicine, NIH. March 13, 2011. Retrieved 21 March 2011. ... "Hemoglobinopathies and Thalassemias". Archived from the original on 2007-12-15. Retrieved 2011-03-03. "Sickle Cell Trait and ... Rivella, S. (May 2009). "Ineffective erythropoiesis and thalassemias". Curr. Opin. Hematol. 16 (3): 187-94. doi:10.1097/MOH. ...
Alpha-thalassemia, like sickle cell trait, is typically inherited in areas with increased exposure to malaria. It manifests ... In endurance-trained individuals with sickle cell trait the presence of alpha-thalassemia has been shown to act protectively ... December 1991). "Effects of alpha-thalassemia and sickle polymerization tendency on the urine-concentrating defect of ... MedlinePlus Encyclopedia: Rhabdomyolysis ""Sickle Cell Disease and Thalassemia", American Society of Hematology. "Sickle Cell ...
The work investigated malaria parasite species interactions and host protection by alpha thalassaemia. Since 2000, Maitland has ...
Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 and HBA2. Thalassemias are ... making the baby a silent alpha thalassemia carrier, two alpha globin gene deletions (alpha thalassemia), or hemoglobin H ... Diagnosis of alpha-thalassemia is primarily by laboratory evaluation and molecular diagnosis. Alpha-thalassemia can be mistaken ... can be used for the confirmation of a diagnosis of alpha-thalassemia, particularly for the detection of alpha-thalassemia ...
Alpha thalassemia is a blood disorder that reduces the production of hemoglobin . Explore symptoms, inheritance, genetics of ... A loss of two of the four alpha-globin alleles results in alpha thalassemia trait. People with alpha thalassemia trait may have ... and the other serious health problems associated with alpha thalassemia.. Two additional forms of alpha thalassemia are related ... medlineplus.gov/genetics/condition/alpha-thalassemia/ Alpha thalassemia. ...
... α-thalassemia) syndromes are a group of hereditary anemias of varying clinical severity. They are characterized by reduced or ... thalassemia (-α/-α) results in the development of alpha thalassemia trait, also referred to as alpha thalassemia minor or alpha ... Other names for this condition are alpha thalassemia minima, alpha thalassemia-2 trait, and heterozygosity for alpha(+) ... Management of alpha thalassemia. Individuals with mild forms of alpha thalassemia may not require specific treatment except as ...
This live offering of the Virtual Thalassemia Grand Rounds for healthcare professionals provides the most current foundational ... information and clinical considerations to assess and treat patients who have thalassemia. ... The Non-Transfusion-Dependent Thalassemias: An Enduring Challenge. ... Describe features of the pathophysiology of alpha thalassemia major.. *List complications associated with alpha thalassemia ...
... α-thalassemia) syndromes are a group of hereditary anemias of varying clinical severity. They are characterized by reduced or ... encoded search term (Alpha Thalassemia) and Alpha Thalassemia What to Read Next on Medscape ... Regulation of human alpha-globin gene expression and alpha-thalassemia. Genet Mol Res. 2008. 7(4):1045-53. [QxMD MEDLINE Link ... Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. Br ...
... alpha alpha/alpha alpha). The results indicate that homozygous alpha+ thalassaemia reduces the extent of peripheral retinal ... alpha-/alpha-) ameliorates some of the clinical manifestations of homozygous sickle cell (SS) disease but its effect on retinal ... with SS disease and homozygous alpha+ thalassaemia and in 39 age/sex matched controls with SS disease but with a normal alpha ... alpha alpha/alpha alpha). The results indicate that homozygous alpha+ thalassaemia reduces the extent of peripheral retinal ...
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type Grants and funding * MC_UU_00016/1/MRC_/Medical Research Council/ ...
2022). Alpha- and Beta-thalassemia: Rapid evidence review.. https://www.aafp.org/pubs/afp/issues/2022/0300/p272.html. ... thalassemia is an inherited type of anemia. There are different types of thalassemia, including thalassemia major and minor. ... Thalassemia: Thalassemia minor is usually asymptomatic and has a good outlook. Thalassemia major is severe. The long-term ... of death due to thalassemia.. Aplastic anemia. The NHLBI. notes that aplastic anemia is a rare type of bone marrow failure in ...
Whats the Difference Between Alpha- and Beta-Thalassemia?. Learn what distinguishes alpha- from beta-thalassemia and how they ... Whats Pregnancy Like If You Have Thalassemia?. Thalassemia in pregnancy can be a serious condition. Since your body doesnt ... What Is Sickle Cell Thalassemia?. Learn what causes sickle cell thalassemia, a milder form of sickle cell disease. ...
OMIM:300032: Alpha-thalassemia/mental retardation syndrome. OMIM:301040: Juberg-Marsidi syndrome. OMIM:309590: Sutherland-Haan ... The structure of the carboxyl-terminal domain of eIF4A has been determined; it has a parallel alpha-beta topology that ...
Atrx (alpha thalassemia - short description of effect on globin genes) or ATRX by K. McDowell Arx Aristaless-like homeobox ( ... RAR-alpha Retinoic Acid Receptor (mouse) by D. Bravo de Laguna RAR-beta (Rat) by A. Firby RAR-beta (mouse) by S. McBean RAR- ... RXR-alpha(Mouse) by W. Assaily Ryk, Wnt3, Ephrins, and neural patterning (Chick) by N. Samaan Sevenless (sev - Drosophila) by A ...
Proteintech Anti-Hemoglobin alpha Polyclonal, Catalog # 14537-1-AP. Tested in Western Blot (WB) and Immunoprecipitation (IP) ... Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some ... Protein Aliases: alpha 1 globin; alpha globin 1; alpha one globin; Alpha-1/2-globin; alpha-2 globin chain; Alpha-globin; delta ... haemaglobin alpha 1; hemoglobin alpha 1 chain; hemoglobin alpha 1 globin chain; Hemoglobin alpha chain; hemoglobin alpha, adult ...
Alpha. thalassaemia is associated with increased soluble transferrin receptor. levels. Br J Haematol. 1998;103:365-9.. 37. Ong ... Thalassemia as a global health problem: recent progress. toward its control in the developing countries. Ann N Y Acad Sci.. ... common a-thalassemia point mutations and deletions. Clin Chem Lab. Med. 2007;45:605-10.. 21. WHO. Iron deficiency anaemia: ... hospital patients in a population with a high prevalence of thalassaemia. trait. Int J Lab Hematol. 2008;30:487-93.. 38. ...
The mild form of P-thalassemia produces small red blood cells. Alpha-thalassemias are caused by deletion of a gene or genes ... thalassemia, P-thalassemia, thalassemia major, thalassemia intermedia, a -thalassemia, and hemoglobin H disease. Alternatively ... thalassemia, P-thalassemia, thalassemia major, thalassemia intermedia, a-thalassemia, and hemoglobin H disease. ... thalassemia major, thalassemia intermedia, and a-thalassemias such as hemoglobin H disease. P-thalassemias are caused by a ...
... such as alpha and beta thalassemias. ... Alpha Omega Alpha, American Academy of Pediatrics, American ...
Alpha or beta thalassemia results from a quantitative defect in the synthesis of either the alpha- or beta-globin chain. *The ...
Malaria is endemic in Papua New Guinea and 68 percent of children living there have alpha thalassemia.. ... Thalassemia. *Nevertheless, the genes for sickle cell disease and thalassemia still exist and are passed down to children who ... THALASSEMIA. UNBORN BABY. PREGNANT WOMEN. GIN. ENLARGED SPLEEN. JAUNDICE. POLIO. RABIES. SYMPTOMS. ...
Takayasus arteritis or alpha-thalassemia.. How can one possibly expect that these types of snap judgments that we are taught ...
Here, we identify the SWI/SNF helicase ATRX (alpha-thalassemia/ MR, X-linked) as a novel macroH2A-interacting protein. Unlike ...
Alpha-thalassemia is particularly common among people with African, Mediterranean... read more . If a heterozygotes mate is ... and several ethnic groups are screened for thalassemia Thalassemias Thalassemias are a group of inherited microcytic, hemolytic ...
... alpha-thalassemia, and autoimmune hemolytic anemia) (22,23). It can also cause TAC in other conditions in which increased red ... Maternal serum alpha-fetoprotein--a marker of fetal aplastic crisis during intrauterine human parvovirus infection. Lancet 1987 ...
... alpha-1 antitrypsin deficiency, sickle cell disease, beta-thalassemia and APOL1-mediated kidney diseases. Vertexs non-CF ...
Detailed information on thalassemias, including alpha thalassemia, beta thalassemia (Cooleys anemia) ... Alpha Thalassemia. Beta Thalassemia (Cooleys Anemia). #TomorrowsDiscoveries: Using Stem Cells to Treat Blood Disorders - Dr. ... Thalassemias. Blood and Bone Marrow Genetic Disorders Thalassemias are inherited disorders characterized by abnormal production ... Listed in the directory below, you will find additional information regarding two different types of thalassemia, for which we ...
Haptoglobin, alpha-thalassaemia and glucose-6-phosphate dehydrogenase polymorphisms and risk of abnormal transcranial Doppler ... Alpha-tryptase gene variation is associated with levels of circulating IgE and lung function in asthma - A.M. Abdelmotelb, M.J ...
Unity Test Gives Insight Into Your Unborn Babys Alpha & Beta Thalassemia Status. ... Unity Test Gives Insight Into Your Unborn Babys Alpha & Beta Thalassemia Status ...
Alpha Thalassemia. *Iron. *Pregnant or Breastfeeding? Nutrients You Need. *Formula Feeding FAQs: Getting Started ...
alpha^+^ Thalassemia. 1. BeFree. umls:C1512326. Human T-cell lymphotropic virus 1 infection. 1. BeFree. ...
  • If hemoglobin Barts is detected on a newborn screen, the patient is usually referred for further evaluation since detection of hemoglobin Barts can indicate either one alpha globin gene deletion, making the baby a silent alpha thalassemia carrier, two alpha globin gene deletions (alpha thalassemia), or hemoglobin H disease (three alpha globin gene deletions). (wikipedia.org)
  • Molecular analysis of DNA sequences (DNA analysis) can be used for the confirmation of a diagnosis of alpha-thalassemia, particularly for the detection of alpha-thalassemia carriers (deletions or mutations in only one or two alpha-globin genes). (wikipedia.org)
  • Alpha thalassemia typically results from deletions involving the HBA1 and HBA2 genes. (medlineplus.gov)
  • Deletions and nondeletion variants in one or more alleles reduce the amount of alpha-globin cells produce. (medlineplus.gov)
  • Nondeletion variants tend to reduce alpha-globin more than deletions. (medlineplus.gov)
  • Because nondeletion variants are usually more severe than deletions, nondeletion variants in two of the four alpha-globin alleles can result in HbH disease. (medlineplus.gov)
  • Mutations and gene deletions causing the various thalassemia genotypes have arisen independently in different populations but have subsequently propagated by means of natural selection. (medscape.com)
  • Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. (medscape.com)
  • B19 is the primary etiologic agent causing TAC in patients with chronic hemolytic anemias (e.g., sickle cell disease, hemoglobin SC disease, hereditary spherocytosis, alpha-thalassemia, and autoimmune hemolytic anemia) (22,23). (cdc.gov)
  • Geneva Univer- thies, including thalassemia and sickle-cell disease ( 4 ). (who.int)
  • Regular blood transfusions and folate supplements are treatments for severe thalassemia. (hopkinsmedicine.org)
  • Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 and HBA2. (wikipedia.org)
  • Identify strategies the healthcare team can utilize to improve care coordination and outcomes for a clinically significant form of thalassemia. (cdc.gov)
  • citation needed] Deletion of four alpha globin genes was previously felt to be incompatible with life, but there are currently 69 patients who have survived past infancy. (wikipedia.org)
  • Less commonly, changes to the DNA sequence in or near these genes cause alpha thalassemia. (medlineplus.gov)
  • Both the HBA1 and HBA2 genes provide instructions for making a protein called alpha-globin, which is a component (subunit) of hemoglobin . (medlineplus.gov)
  • Similarly, with HbF being the major subfraction in the fetus, γ -thalassaemia is likely to cause varying degrees of anaemia in the fetus, depending on the number of γ -globin genes inactivated or deleted. (scielo.org.za)
  • Some haemoglobinopathy genes ( alpha-thal, beta-thal and HbS ) cause alpha-thalassaemia, beta-thalassaemia and sickle-cell anaemia, respectively, but others ( HbE and HbC ) cause severe clinical manifestations of the disease only when combined with one of the former genes. (who.int)
  • Beta thalassemia occurs when one or both of the two genes that make beta-globin don't work or only partly work as they should. (thalassemiapune.co.in)
  • When both genes are damaged, it means you got a thalassemia gene from each parent. (thalassemiapune.co.in)
  • This type occurs when one or more of the four alpha-globin genes that make hemoglobin are missing or damaged. (thalassemiapune.co.in)
  • If all four genes are missing: This is called alpha thalassemia majoror hydrops fetalis. (thalassemiapune.co.in)
  • A defect in one or more genes causes thalassemia. (thalassemiapune.co.in)
  • A gene test to see if you have the genes that cause thalassemia. (thalassemiapune.co.in)
  • Carriers (people with only one abnormal gene) usually do not have any problems, unless they carry other abnormal genes that interact with the thalassemia gene. (hopkinsmedicine.org)
  • In these rounds, Elliott Vichinsky, MD, and Billie Lianoglou, MS, will discuss the genetics and the pathophysiology of complications in alpha thalassemia major. (cdc.gov)
  • The more severe type is known as hemoglobin Bart hydrops fetalis syndrome, which is also called Hb Bart syndrome or alpha thalassemia major. (medlineplus.gov)
  • Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. (medscape.com)
  • Workup in alpha thalassemia relies primarily on laboratory evaluation, hemoglobin electrophoresis, and genetic testing (alpha thalassemia mutations panel). (medscape.com)
  • A) with Deletional and Nondeletional a + -Thalassemia Mutations: Diverse Hematological and Clinical Features. (medscape.com)
  • Furthermore, endemic malaria, which leads to natural selection of thalassemia gene, seems to be essential to research on alpha thalassemia prevalence and common mutations in this province that can provide a valuable foundation for rapid carrier thalassemia screening, genetic counseling and prenatal diagnosis. (ac.ir)
  • In some south-east Asian countries up to 40% of the population may carry significant haemoglobin mutations, resulting in increased rates of infants born with thalassaemia. (who.int)
  • Gamma- and δ -thalassaemia do not ause any clinically recognisable disease postnatally, as HbA2 and bF constitute only a small fraction of Hb in adults. (scielo.org.za)
  • So keeping these two indices together with HBA2 can be more useful in thalassemia screening. (ac.ir)
  • The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. (thermofisher.com)
  • Alpha thalassemia is the most common genetic abnormality in hemoglobin synthesis, which hypochromic microcytic anemia characterizes it, and presents the variable clinical phenotype from a symptomatic to lethal hemolytic anemia. (ac.ir)
  • If you, either parent, or any of your siblings have thalassemia or carry a gene for thalassemia and you're thinking about having a child, you may want to talk to a genetic counselor before you get pregnant. (thalassemiapune.co.in)
  • A brief review considered selected genetic variants and associated diseases such as red blood cell traits and predisposure to acute hemolytic anemia for persons with glucose-6-dehydrogenase deficiency, the occurrence of sickle cell anemia in individuals having a specific change in the amino acid structure of the peptide chains of hemoglobin, and the occurrence of thalassemia major due to a genetic defect in the rate of hemoglobin synthesis. (cdc.gov)
  • Genetic traits associated with lung diseases include increased aryl- hydrocarbon-hydrolase activity associated with bronchogenic carcinoma, and alpha-1-antitrypsin deficiency associated with obstructive pulmonary disease, particularly emphysema. (cdc.gov)
  • Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. (wikipedia.org)
  • Thalassemias Thalassemias are a group of inherited microcytic, hemolytic anemias characterized by defective hemoglobin synthesis. (msdmanuals.com)
  • There are 4 major types of globins: alpha (α), beta (β), gamma (γ), and delta (δ). (medscape.com)
  • Hb Bart syndrome, the most severe form of alpha thalassemia, results from the loss or alteration of all four alpha-globin alleles. (medlineplus.gov)
  • Individuals with thalassemia syndrome are most often of African, Asian, Mediterranean, or Middle Eastern descent. (medscape.com)
  • Haas PS, Roy NB, Gibbons RJ, Deville MA, Fisher C, Schwabe M. The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS). (medscape.com)
  • The thalassemia syndromes are a group of hereditary disorders in the synthesis of hemoglobin that result in varying degrees of anemia. (cdc.gov)
  • Now iron deficiency anemia , lead poisoning , and sideroblastic anemia are caused by defective heme synthesis, while thalassemias are caused by defective globin chains. (osmosis.org)
  • Prevalence study and molecular characterization of alpha-thalassemia in Filipinos. (medscape.com)
  • South Africa is not a malaria-endemic area, and therefore has a predictably low prevalence of thalassaemia and other inherited Hb disorders. (scielo.org.za)
  • The term thalassaemia is derived from the Greek word thalassa, which means sea, as thalassaemia was known for its prevalence around the Mediterranean Sea. (scielo.org.za)
  • The severity of the α-thalassemias is correlated with the number of affected α-globin alleles: the greater, the more severe will be the manifestations of the disease. (wikipedia.org)
  • However, some types of anemia, such as thalassemia and aplastic anemia, are more severe and can be life threatening. (medicalnewstoday.com)
  • Thalassemia major is severe. (medicalnewstoday.com)
  • Severe alpha-thalassaemia is common in south-east Asia, and sickle-cell anaemia predominates in Africa. (who.int)
  • People with severe anemia (called beta thalassemia major orCooley's anemia) need blood transfusions throughout life. (thalassemiapune.co.in)
  • Severe thalassemia may be treated with: o Blood transfusions. (thalassemiapune.co.in)
  • These vaccines may protect you from severe infections, which can make anemia worse and cause severe illness in people with thalassemia. (thalassemiapune.co.in)
  • The alpha thalassemia (α-thalassemia) syndromes are a group of hereditary anemias of varying clinical severity. (medscape.com)
  • Thalassemia is more prevalent in regions in which malaria is endemic because the RBC phenotype confers some protection against malaria. (medscape.com)
  • [ 10 ] Individuals with beta thalassemia syndromes have somewhat better protection against malaria than individuals with alpha thalassemia syndromes. (medscape.com)
  • Heterozygotes (thalassaemia carriers) enjoy partial protection against malaria, with consequential survival advantage. (scielo.org.za)
  • 25 of these cases had the -alpha 3.7 deletion type of alpha-thalassaemia and nine had nondeletion types of alpha-thalassaemia in four of which the molecular defect was detectable directly by restriction enzyme analysis. (ox.ac.uk)
  • some nondeletion alpha thalassemias have also been reported. (thermofisher.com)
  • Now, let's focus on the microcytic anemias, and the most common causes are iron deficiency anemia , lead poisoning , sideroblastic anemia , and thalassemias . (osmosis.org)
  • A loss of one alpha-globin allele is found in alpha thalassemia silent carriers. (medlineplus.gov)
  • Globally, the percentage of carriers of thalassaemia is greater than that of carriers of sickle-cell anaemia, but because of the higher frequency of the sickle-cell gene in certain regions, the number of affected births is higher than with thalassaemia. (who.int)
  • with those computed via global burden of disease, or by · screening for carriers of common autosomal recessive dis- involving countries in the process of computation to assess orders in the Region, including beta thalassemia and sickle the accuracy of CGD estimates. (who.int)
  • The mechanism sees that α thalassemias results in decreased alpha-globin production, therefore fewer alpha-globin chains are produced, resulting in an excess of β chains in adults and excess γ chains in newborns. (wikipedia.org)
  • Treatment for alpha-thalassemia may include blood transfusions to maintain hemoglobin at a level that reduces symptoms of anemia. (wikipedia.org)
  • People with alpha thalassemia trait may have unusually small, pale red blood cells and mild anemia. (medlineplus.gov)
  • Alpha thalassemia combined with sickle-cell anemia results in a higher hemoglobin concentration and improved RBC survival. (medscape.com)
  • In alpha thalassemia major, a life-threatening anemia can develop in utero, necessitating the use of prenatal blood transfusions. (cdc.gov)
  • According to the Centers for Disease Control and Prevention (CDC) , thalassemia is an inherited type of anemia. (medicalnewstoday.com)
  • If you have moderate anemia (beta thalassemia intermedia), you may need blood transfusions. (thalassemiapune.co.in)
  • Describe features of the pathophysiology of alpha thalassemia major. (cdc.gov)
  • This CME series on thalassaemia is divided into 2 sections: part 1 (current issue) covers epidemiology, pathophysiology, clinical exposition and diagnosis, whereas part 2 (next issue) is dedicated to matters pertaining to management. (scielo.org.za)
  • Alpha-globin chains are transcribed on chromosome 16 ( Fig. 1 ) and non- α -globin ' chains are transcribed on chromosome 11 ( Fig. 2 ) (discussed below). (scielo.org.za)
  • Alpha-thalassemia can be mistaken for iron-deficiency anaemia on a full blood count or blood film, as both conditions have a microcytic anaemia. (wikipedia.org)
  • Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. (ox.ac.uk)
  • Malaria is endemic in Papua New Guinea and 68 percent of children living there have alpha thalassemia. (keywen.com)
  • If you were to change the question to ,"The patient is a 35 year old Asian-American female," my mental list of prejudiced diagnoses changes drastically: Takayasu's arteritis or alpha-thalassemia. (kevinmd.com)
  • Le diagnostic de thalassémie a été posé chez six patients (19,4 %) et celui de déficit en glucose-6-phosphate déshydrogénase chez sept patients (22,6 %), parmi lesquels six patients étaient atteints d'une forme modérée et un patient d'une forme sévère. (who.int)
  • Patients with thalassaemia need regular transfusions of red blood cells (once or twice monthly) in order to maintain a mean haemoglobin concentration of about 9.0-10.5 g/dl. (who.int)
  • A study by Kreger et al combining a retrospective review of three cases of alpha thalassemia major and a literature review of 17 cases found that in utero transfusion can lead to favorable outcomes. (wikipedia.org)
  • Management of alpha thalassemia major is complex and may present many challenges to overcome. (cdc.gov)
  • List complications associated with alpha thalassemia major. (cdc.gov)
  • Describe an appropriate monitoring and treatment management plan for alpha thalassemia major. (cdc.gov)
  • There are different types of thalassemia , including thalassemia major and minor . (medicalnewstoday.com)
  • These individuals typically have no thalassemia-related signs or symptoms. (medlineplus.gov)
  • Alpha thalassemia also occurs frequently in people from Mediterranean countries, Africa, the Middle East, India, and Central Asia. (medlineplus.gov)
  • Beta- thalassaemia is the most common haemoglobin disorder in the Mediterranean basin, the Middle East and Asia. (who.int)
  • Alpha-thalassemia is particularly common among people with African, Mediterranean. (msdmanuals.com)
  • Thalassemia is one of the world's most common single-gene disorders. (medscape.com)
  • Thalassemias are inherited disorders characterized by abnormal production of hemoglobin, a protein in red blood cells that carries oxygen. (hopkinsmedicine.org)
  • this leads to the clinical disease known as alpha thalassemia. (medscape.com)
  • The frequency of thalassaemia and/or G6PD deficiency with SCD was high and this may have an effect on the severity of the clinical course of SCD in Taiz. (who.int)
  • The dominant hemoglobin in adults (hemoglobin A) is composed of 2 alpha and 2 beta chains. (medscape.com)
  • Prenatal control of nondeletional a-thalassemia: first experience in mainland China. (medscape.com)
  • Alpha thalassemia is a fairly common blood disorder worldwide. (medlineplus.gov)
  • Alpha-thalassemia is very common throughout all tropical and subtropical regions of the world. (ox.ac.uk)
  • Heart failure and irregular heart rhythm are the most common cause of death due to thalassemia. (medicalnewstoday.com)
  • Beta thalassemia is the most common. (thalassemiapune.co.in)
  • Mild thalassemia, the most common form, does not need treatment. (thalassemiapune.co.in)
  • Diagnosis of alpha-thalassemia is primarily by laboratory evaluation and molecular diagnosis. (wikipedia.org)
  • Molecular and hematological studies in a large cohort of a 0 -thalassemia in northeast Thailand: Data from a single referral center. (medscape.com)
  • The molecular basis of alpha-thalassaemia was also determined in a selected group of 34 newborns with detectable levels of Hb Bart's. (ox.ac.uk)
  • HbH disease is usually caused by loss or alteration of three of the four alpha-globin alleles, which sharply reduces the amount of normal alpha-globin produced. (medlineplus.gov)
  • in alpha-thalassemia, there is a quantitative decrease in the amount of alpha chains, resulting in fewer normal hemoglobin molecules. (wikipedia.org)
  • With a shortage of alpha-globin, cells make little or no normal hemoglobin. (medlineplus.gov)
  • Hemoglobin analysis is important for the diagnosis of alpha-thalassemia as it determines the types and percentages of types of hemoglobin present. (wikipedia.org)
  • Two types of alpha thalassemia can cause health problems. (medlineplus.gov)
  • The different types of alpha thalassemia result from the loss or alteration of some or all of these alleles. (medlineplus.gov)
  • What are the types of thalassemia? (thalassemiapune.co.in)
  • There are two main types: alpha and beta. (thalassemiapune.co.in)
  • A blood test that measures the amounts of different types of hemoglobin, to help find out which type of thalassemia you have. (thalassemiapune.co.in)
  • Listed in the directory below, you will find additional information regarding two different types of thalassemia, for which we have provided a brief overview. (hopkinsmedicine.org)
  • Alpha thalassemia is a blood disorder that reduces the production of hemoglobin . (medlineplus.gov)
  • Thalassemia (say "thal-uh-SEE-mee-uh") is an inherited blood disorder that causes your body to make less hemoglobin or abnormal hemoglobin. (thalassemiapune.co.in)
  • Two minor forms of hemoglobin constitute a small percentage of normal blood: hemoglobin F (fetal), composed of 2 alpha chains and 2 gamma chains, and hemoglobin A2, composed of 2 alpha chains and 2 delta chains. (medscape.com)
  • A very tightly controlled globin chain production process keeps the ratio of alpha chains to non-alpha chains at 1.00 (± 0.05). (medscape.com)
  • alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. (thermofisher.com)
  • Classification of thalassaemia is based on the type of globin chain that is deficient. (scielo.org.za)
  • The presentation of individuals with alpha-thalassemia consists of: Alpha-thalassemias are most commonly inherited in a Mendelian recessive manner. (wikipedia.org)
  • A reverse dot-blot method for rapid detection of non-deletion alpha thalassaemia. (medscape.com)