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 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.
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.
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.
A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.
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.
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)
A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
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.
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.
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.
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.
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.
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.
The number of RED BLOOD CELLS per unit volume in a sample of venous BLOOD.
Oxygen-carrying RED BLOOD CELLS in mammalian blood that are abnormal in structure or function.
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.
The condition of being heterozygous for hemoglobin S.
An individual having different alleles at one or more loci regarding a specific character.
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).
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.
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.
Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.
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.
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.
Measurement of hemoglobin concentration in blood.
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.
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.
Anemia characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte, i.e., the mean corpuscular hemoglobin concentration is less than normal. The individual cells contain less hemoglobin than they could have under optimal conditions. Hypochromic anemia may be caused by iron deficiency from a low iron intake, diminished iron absorption, or excessive iron loss. It can also be caused by infections or other diseases, therapeutic drugs, lead poisoning, and other conditions. (Stedman, 25th ed; from Miale, Laboratory Medicine: Hematology, 6th ed, p393)
RED BLOOD CELL sensitivity to change in OSMOTIC PRESSURE. When exposed to a hypotonic concentration of sodium in a solution, red cells take in more water, swell until the capacity of the cell membrane is exceeded, and burst.
Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.
Identification of genetic carriers for a given trait.
A commonly occurring abnormal hemoglobin in which lysine replaces a glutamic acid residue at the sixth position of the beta chains. It results in reduced plasticity of erythrocytes.
The formation and development of blood cells outside the BONE MARROW, as in the SPLEEN; LIVER; or LYMPH NODES.
The great peninsula of southwest Asia comprising most of the present countries of the Middle East. It has been known since the first millennium B.C. In early times it was divided into Arabia Petraea, the northwest part, the only part ever conquered, becoming a Roman province; Arabia Deserta, the northern part between Syria and Mesopotamia; and Arabia Felix, the main part of the peninsula but by some geographers restricted to modern Yemen. (From Webster's New Geographical Dictionary, 1988, p63)
A member of the beta-globin family. In humans, delta-globin is encoded in the beta-globin gene cluster located on CHROMOSOME 11. Two delta-globin chains along with two alpha-globin chains form HEMOGLOBIN A2 which makes up about 3% of the HEMOGLOBIN in adults.
The senescence of RED BLOOD CELLS. Lacking the organelles that make protein synthesis possible, the mature erythrocyte is incapable of self-repair, reproduction, and carrying out certain functions performed by other cells. This limits the average life span of an erythrocyte to 120 days.
Derivatives of BENZOIC ACID. Included under this heading are a broad variety of acid forms, salts, esters, and amides that contain the carboxybenzene structure.
The research and development of ELECTRICAL EQUIPMENT AND SUPPLIES for such medical applications as diagnosis, therapy, research, anesthesia control, cardiac control, and surgery. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
A disease characterized by compensated hemolysis with a normal hemoglobin level or a mild to moderate anemia. There may be intermittent abdominal discomfort, splenomegaly, and slight jaundice.
One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia.
A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.
The collective name for the islands of the Pacific Ocean northeast of Australia, including NEW CALEDONIA; VANUATU; New Hebrides, Solomon Islands, Admiralty Islands, Bismarck Archipelago, FIJI, etc. Melanesia (from the Greek melas, black + nesos, island) is so called from the black color of the natives who are generally considered to be descended originally from the Negroid Papuans and the Polynesians or Malays. (From Webster's New Geographical Dictionary, 1988, p748 & Room, Brewer's Dictionary of Names, 1992, p344)
Low-molecular-weight compounds produced by microorganisms that aid in the transport and sequestration of ferric iron. (The Encyclopedia of Molecular Biology, 1994)
Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES.
A disorder of iron metabolism characterized by a triad of HEMOSIDEROSIS; LIVER CIRRHOSIS; and DIABETES MELLITUS. It is caused by massive iron deposits in parenchymal cells that may develop after a prolonged increase of iron absorption. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
Formerly known as Siam, this is a Southeast Asian nation at the center of the Indochina peninsula. Bangkok is the capital city.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
Electrophoresis applied to BLOOD PROTEINS.
The transfer of erythrocytes from a donor to a recipient or reinfusion to the donor.
Actual loss of portion of a chromosome.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
Abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. They are seen in thalassemias, enzymopathies, hemoglobinopathies, and after splenectomy.
Members of the beta-globin family. In humans, two non-allelic types of gamma-globin - A gamma and G gamma are encoded in the beta-globin gene cluster on CHROMOSOME 11. Two gamma-globin chains combine with two ZETA-GLOBIN chains to form the embryonic hemoglobin Portland. Fetal HEMOGLOBIN F is formed from two gamma-globin chains combined with two ALPHA-GLOBIN chains.
The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity.
An island republic in the eastern Mediterranean Sea. Its capital is Nicosia. It was colonized by the Phoenicians and ancient Greeks and ruled successively by the Assyrian, Persian, Ptolemaic, Roman, and Byzantine Empires. It was under various countries from the 12th to the 20th century but became independent in 1960. The name comes from the Greek Kupros, probably representing the Sumerian kabar or gabar, copper, famous in historic times for its copper mines. The cypress tree is also named after the island. (From Webster's New Geographical Dictionary, 1988, p308 & Room, Brewer's Dictionary of Names, 1992, p134)
The cells in the erythroid series derived from MYELOID PROGENITOR CELLS or from the bi-potential MEGAKARYOCYTE-ERYTHROID PROGENITOR CELLS which eventually give rise to mature RED BLOOD CELLS. The erythroid progenitor cells develop in two phases: erythroid burst-forming units (BFU-E) followed by erythroid colony-forming units (CFU-E); BFU-E differentiate into CFU-E on stimulation by ERYTHROPOIETIN, and then further differentiate into ERYTHROBLASTS when stimulated by other factors.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Ability of ERYTHROCYTES to change shape as they pass through narrow spaces, such as the microvasculature.
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.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
Iron or iron compounds used in foods or as food. Dietary iron is important in oxygen transport and the synthesis of the iron-porphyrin proteins hemoglobin, myoglobin, cytochromes, and cytochrome oxidase. Insufficient amounts of dietary iron can lead to iron-deficiency anemia.
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable daily fluctuations of the bilirubin level.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression. (1/992)

The analysis of a number of cases of beta-globin thalassemia and hereditary persistence of fetal hemoglobin (HPFH) due to large deletions in the beta-globin locus has led to the identification of several DNA elements that have been implicated in the switch from human fetal gamma- to adult beta-globin gene expression. We have tested this hypothesis for an element that covers the minimal distance between the thalassemia and HPFH deletions and is thought to be responsible for the difference between a deletion HPFH and deltabeta-thalassemia, located 5' of the delta-globin gene. This element has been deleted from a yeast artificial chromosome (YAC) containing the complete human beta-globin locus. Analysis of this modified YAC in transgenic mice shows that early embryonic expression is unaffected, but in the fetal liver it is subject to position effects. In addition, the efficiency of transcription of the beta-globin gene is decreased, but the developmental silencing of the gamma-globin genes is unaffected by the deletion. These results show that the deleted element is involved in the activation of the beta-globin gene perhaps through the loss of a structural function required for gene activation by long-range interactions.  (+info)

A new alkali-resistant hemoglobin alpha2J Oxford gammaF2 in a Sicilian baby girl with homozygous beta0 thalassemia. (2/992)

A 10-mo-old baby girl with homozygous beta0 thalassemia and alphaJOxford, presenting the clinical picture of homozygous beta thalassemia is described. Hemoglobin electrophoresis showed three bands: the first two with the mobilities of hemoglobin Hb A2 (1%) and Hb F (69%), respectively, the third migrating a little faster than Hb A (30%). About 30% of her alpha chains were J Oxford which, bound to her gamma chains, produced a new alkali-resistant hemoglobin, alpha2 J Oxford gamma F2, which has not been described previously. Hemoglobin synthesis in vitro showed the absence of beta chain synthesis and an alpha/non-alpha ratio of 2. The patient's father was heterozygous for both the Hb J Oxford and beta0 thalassemia genes, the mother a carrier of beta0 thalassemia; four other relatives were carriers of Hb J Oxford, and one was a carrier of beta thalassemia.  (+info)

'Common' uncommon anemias. (3/992)

Of the uncommon anemias, "common" types include the anemia of renal disease, thalassemia, myelodysplastic syndrome and the anemia of chronic disease. These conditions may be suggested by the clinical presentation, laboratory test values and peripheral blood smear, or by failure of the anemia to respond to iron supplements or nutrient replacement. The principal cause of the anemia of renal disease is a decreased production of red blood cells related to a relative deficiency of erythropoietin. When treatment is required, erythropoietin is administered, often with iron supplementation. In the anemia of chronic disease, impaired iron transport decreases red blood cell production. Treatment is predominantly directed at the underlying condition. Since iron stores are usually normal, iron administration is not beneficial. Thalassemia minor results from a congenital abnormality of hemoglobin synthesis. The disorder may masquerade as mild iron deficiency anemia, but iron therapy and transfusions are often not indicated. In the myelodysplastic syndrome, blood cell components fail to mature, and the condition may progress to acute nonlymphocytic leukemia. The rate of progression depends on the subtype of myelodysplasia, but the leukemia is usually resistant to therapy.  (+info)

Hormonal changes in thalassaemia major. (4/992)

Patients with severe thalassaemia major suffer endocrine and other abnormalities before their eventual death from iron overload due to repeated blood transfusions. The endocrine status of 31 thalassaemic patients aged 2-5 to 23 years was investigated. Exact data were available on the rate and duration of blood transfusion in all of them and in many the liver iron concentration was also known. Although the patients were euthyroid, the mean serum thyroxine level was significantly lower, and the mean thyrotrophic hormone level significantly higher, compared with the values found in normal children. Forty oral glucose tolerance tests with simultaneous insulin levels were performed in 19 children, of whom 5 developed symptomatic diabetes and one had impaired tolerance. Previous tests on all 6 patients were available and some showed raised insulin levels possibly due to insulin resistance. 2 patients had clinical hypoparathyroidism and are described. The parathyroid hormone levels determined by radioimmunoassay in 25 patients were below the mean for the age group in all and outside the reference range in 16. Nonfasting plasma calcium levels were not reduced. Puberty was delayed in some patients. Concentrations of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) measured in urine from 7 girls and 5 boys showed considerable variation. In the boys there was an overall tendency for FSH and LH excretion to be low with regard to age, but with respect to puberty rating FSH exretions were normal or low and LH normal or raised. The girls showed a tendency for LH but not FSH excretion to be raised in relation to puberty rating. The severity of the endocrine changes was related to the degree of iron loading and is discussed in relation to previous work in which the iron loading has rarely been accurately indicated nor parathyroid status assessed.  (+info)

Birth of healthy children after preimplantation diagnosis of thalassemias. (5/992)

BACKGROUND: Preimplantation genetic diagnosis (PGD) allows couples at risk of having children with thalassemia to ensure the healthy outcome of their pregnancy. METHODS: Seventeen PGD clinical cycles were initiated for Cypriot couples at risk of having children with different thalassemia mutations, including IVSI-110, IVSI-6, and IVS II-745. Unaffected embryos for transfer were selected by testing oocytes, using first and second polar body (PB) removal and nested polymerase chain reaction analysis followed by restriction digestion. RESULTS: Unaffected embryos were selected in 16 of 17 PGD cycles. Of 166 oocytes studied from these cycles, 110 were analyzed by sequential analysis of both the first and the second PB, resulting in preselection and transfer of 45 unaffected embryos. This resulted in seven pregnancies and in the birth of five healthy thalassemia-free children. The embryos predicted to have inherited the affected allele were not transferred. Analysis of these embryos confirmed the PB diagnosis. CONCLUSIONS: Sequential first and second PB testing of oocytes is reliable for PGD of thalassemia and is a feasible alternative to prenatal diagnosis in high-risk populations.  (+info)

Further evidence of a quantitative deficiency of chain-specific globin mRNA in the thalassemia syndromes. (6/992)

Formamide gel electrophoresis separates the mRNA fraction from reticulocyte polyribosomes of adult humans into two major RNA species with migratory rates identical to those of the alpha- and beta-globin mRNAs of the rabbit. That these two RNAs of human origin are the globin mRNAs is further supported by the deficiency of the presumed beta mRNA in reticulocyte polyribosomes of fetuses and premature infants, whose cells make gamma chains in preference to beta chains. The globin mRNAs of reticulocyte polyribosomes from patients with hematological disorders were estimated by scanning the stained formamide gels. In contrast to individuals with either hemolytic anemia without hemoglobinopathy or sickle cell anemia who had beta mRNA to alpha mRNA ratios of approximately one, a patient with Hb S-beta-thalassemia had a ratio of beta mRNA to alpha mRNA of 0.75 while two subjects with homozygous beta-thalassemia had severe deficiencies of beta mRNA. Conversely, a patient with alpha-thalassemia (Hb H disease) had a ratio of beta mRNA to alpha mRNA on reticulocyte polyribosomes of 6. These data provide further evidence of a quantitative deficiency of chain-specific globin mRNA in patients with the thalassemia syndromes.  (+info)

Coexistence of two functioning T-cell repertoires in healthy ex-thalassemics bearing a persistent mixed chimerism years after bone marrow transplantation. (7/992)

Bone marrow transplantation (BMT) from an HLA-identical donor is an established therapy to cure homozygous beta-thalassemia. Approximately 10% of thalassemic patients developed a persistent mixed chimerism (PMC) after BMT characterized by stable coexistence of host and donor cells in all hematopoietic compartments. Interestingly, in the erythrocytic lineage, close to normal levels of hemoglobin can be observed in the absence of complete donor engraftment. In the lymphocytic lineage, the striking feature is the coexistence of immune cells. This implies a state of tolerance or anergy, raising the issue of immunocompetence of the host. To understand the state of the T cells in PMC, repertoire analysis and functional studies were performed on cells from 3 ex-thalassemics. Repertoire analysis showed a profound skewing. This was due to an expansion of some T cells and not to a collapse of the repertoire, because phytohemagglutinin stimulation showed the presence of a complex repertoire. The immunocompetence of the chimeric immune systems was further established by showing responses to alloantigens and recall antigens in vitro. Both host and donor lymphocytes were observed in the cultures. These data suggest that the expanded T cells play a role in specific tolerance while allowing a normal immune status in these patients.  (+info)

Relative numbers of human globin genes assayed with purified alpha and beta complementary human DNA. (8/992)

Purified alpha and beta globin complementary DNAs (cDNAs) have been separated from total radioactively labeled human globin cDNA using mRNA purified from liver of a hydrops fetalis (alpha thalassemia). The beta cDNA hybridizes to the hydrops fetalis mRNA while the alpha cDNA remains single-stranded. the purified alpha and beta cDNAs were assayed for their purity by their hybridization to mRNA prepared from reticulocytes of nonthalassemia, alpha thalassemia, and beta thalassemia subjects. The results indicate that the separated cDNAs are selective in hybridization to alpha or beta globin mRNAs, respectively. The previously reported deficiency of globin mRNA in thalassemia cells has been confirmed with these purified cDNAs. The purified alpha and beta cDNAs were hybridized to cellular DNA to non-thalassemia, beta+ thalassemia, and hydrops fetalis (alpha thalassemia) DNA. The alpha cDNA hybridized to hydrops fetalis liver DNA to a much lower extent that beta cDNA, confirming the previously reported deletion of alpha globin genes in hydrops fetalis. By contrast, both the alpha and beta DNA probes hybridized to the same extent to spleen DNA from non-thalassemia and from beta+ thalassemia patients. Between two and five globin genes in non-thalassemia and beta+ thalassemia DNA hybridize to beta cDNA and one to five to alpha cDNA. These studies indicate that in beta+ thalassemia, there is no detectable deletion in beta globin genes. The genetic defect in beta+ thalassemia appears to be due to either repression of transcription of beta globin genes or abnormal processing of beta globin mRNA.  (+info)

There are two main types of thalassemia: alpha-thalassemia and beta-thalassemia. Alpha-thalassemia is caused by abnormalities in the production of the alpha-globin chain, which is one of the two chains that make up hemoglobin. Beta-thalassemia is caused by abnormalities in the production of the beta-globin chain.

Thalassemia can cause a range of symptoms, including anemia, fatigue, pale skin, and shortness of breath. In severe cases, it can lead to life-threatening complications such as heart failure, liver failure, and bone deformities. Thalassemia is usually diagnosed through blood tests that measure the levels of hemoglobin and other proteins in the blood.

There is no cure for thalassemia, but treatment can help manage the symptoms and prevent complications. Treatment may include blood transfusions, folic acid supplements, and medications to reduce the severity of anemia. In some cases, bone marrow transplantation may be recommended.

Preventive measures for thalassemia include genetic counseling and testing for individuals who are at risk of inheriting the disorder. Prenatal testing is also available for pregnant women who are carriers of the disorder. In addition, individuals with thalassemia should avoid marriage within their own family or community to reduce the risk of passing on the disorder to their children.

Overall, thalassemia is a serious and inherited blood disorder that can have significant health implications if left untreated. However, with proper treatment and management, individuals with thalassemia can lead fulfilling lives and minimize the risk of complications.

There are two main types of beta-thalassemia:

1. Beta-thalassemia major (also known as Cooley's anemia): This is the most severe form of the condition, and it can cause serious health problems and a shortened lifespan if left untreated. Children with this condition are typically diagnosed at birth or in early childhood, and they may require regular blood transfusions and other medical interventions to manage their symptoms and prevent complications.
2. Beta-thalassemia minor (also known as thalassemia trait): This is a milder form of the condition, and it may not cause any noticeable symptoms. People with beta-thalassemia minor have one mutated copy of the HBB gene and one healthy copy, which allows them to produce some normal hemoglobin. However, they may still be at risk for complications such as anemia, fatigue, and a higher risk of infections.

The symptoms of beta-thalassemia can vary depending on the severity of the condition and the age of onset. Common symptoms include:

* Fatigue
* Weakness
* Pale skin
* Shortness of breath
* Frequent infections
* Yellowing of the skin and eyes (jaundice)
* Enlarged spleen

Beta-thalassemia is most commonly found in people of Mediterranean, African, and Southeast Asian ancestry. It is caused by mutations in the HBB gene, which is inherited from one's parents. There is no cure for beta-thalassemia, but it can be managed with blood transfusions, chelation therapy, and other medical interventions. Bone marrow transplantation may also be a viable option for some patients.

In conclusion, beta-thalassemia is a genetic disorder that affects the production of hemoglobin, leading to anemia, fatigue, and other complications. While there is no cure for the condition, it can be managed with medical interventions and bone marrow transplantation may be a viable option for some patients. Early diagnosis and management are crucial in preventing or minimizing the complications of beta-thalassemia.

There are two main forms of alpha-Thalassemia:

1. Alpha-thalassemia major (also known as Hemoglobin Bart's hydrops fetalis): This is a severe form of the disorder that can cause severe anemia, enlarged spleen, and death in infancy. It is caused by a complete absence of one or both of the HBA1 or HBA2 genes.
2. Alpha-thalassemia minor (also known as Hemoglobin carrier state): This form of the disorder is milder and may not cause any symptoms at all. It is caused by a partial deletion of one or both of the HBA1 or HBA2 genes.

People with alpha-thalassemia minor may have slightly lower levels of hemoglobin and may be more susceptible to anemia, but they do not typically experience any severe symptoms. Those with alpha-thalassemia major, on the other hand, are at risk for serious complications such as anemia, infections, and organ failure.

There is no cure for alpha-thalassemia, but treatment options include blood transfusions, iron chelation therapy, and management of associated complications. Screening for alpha-thalassemia is recommended for individuals who are carriers of the disorder, as well as for those who have a family history of the condition.

Symptoms of iron overload can include fatigue, weakness, joint pain, and abdominal discomfort. Treatment for iron overload usually involves reducing iron intake and undergoing regular phlebotomy (blood removal) to remove excess iron from the body. In severe cases, iron chelation therapy may be recommended to help remove excess iron from tissues and organs.

In addition to these medical definitions and treatments, there are also some key points to keep in mind when it comes to iron overload:

1. Iron is essential for human health, but too much of it can be harmful. The body needs a certain amount of iron to produce hemoglobin, the protein in red blood cells that carries oxygen throughout the body. However, excessive iron levels can damage organs and tissues.
2. Hereditary hemochromatosis is the most common cause of iron overload. This genetic disorder causes the body to absorb too much iron from food, leading to its accumulation in organs and tissues.
3. Iron overload can increase the risk of certain diseases, such as liver cirrhosis, diabetes, and heart disease. It can also lead to a condition called hemosiderosis, which is characterized by the deposition of iron in tissues and organs.
4. Phlebotomy is a safe and effective treatment for iron overload. Regular blood removal can help reduce excess iron levels and prevent complications such as liver damage, heart failure, and anemia.
5. Iron chelation therapy may be recommended in severe cases of iron overload. This involves using drugs to remove excess iron from tissues and organs, but it is not always necessary and can have potential side effects.

The most common types of hemoglobinopathies include:

1. Sickle cell disease: This is caused by a point mutation in the HBB gene that codes for the beta-globin subunit of hemoglobin. It results in the production of sickle-shaped red blood cells, which can cause anemia, infections, and other complications.
2. Thalassemia: This is a group of genetic disorders that affect the production of hemoglobin and can result in anemia, fatigue, and other complications.
3. Hemophilia A: This is caused by a defect in the F8 gene that codes for coagulation factor VIII, which is essential for blood clotting. It can cause bleeding episodes, especially in males.
4. Glucose-6-phosphate dehydrogenase (G6PD) deficiency: This is caused by a point mutation in the G6PD gene that codes for an enzyme involved in red blood cell production. It can cause hemolytic anemia, especially in individuals who consume certain foods or medications.
5. Hereditary spherocytosis: This is caused by point mutations in the ANK1 or SPTA1 genes that code for proteins involved in red blood cell membrane structure. It can cause hemolytic anemia and other complications.

Hemoglobinopathies can be diagnosed through genetic testing, such as DNA sequencing or molecular genetic analysis. Treatment options vary depending on the specific disorder but may include blood transfusions, medications, and in some cases, bone marrow transplantation.

Sickle cell anemia is caused by mutations in the HBB gene that codes for hemoglobin. The most common mutation is a point mutation at position 6, which replaces the glutamic acid amino acid with a valine (Glu6Val). This substitution causes the hemoglobin molecule to be unstable and prone to forming sickle-shaped cells.

The hallmark symptom of sickle cell anemia is anemia, which is a low number of healthy red blood cells. People with the condition may also experience fatigue, weakness, jaundice (yellowing of the skin and eyes), infections, and episodes of severe pain. Sickle cell anemia can also increase the risk of stroke, heart disease, and other complications.

Sickle cell anemia is diagnosed through blood tests that measure hemoglobin levels and the presence of sickle cells. Treatment typically involves managing symptoms and preventing complications with medications, blood transfusions, and antibiotics. In some cases, bone marrow transplantation may be recommended.

Prevention of sickle cell anemia primarily involves avoiding the genetic mutations that cause the condition. This can be done through genetic counseling and testing for individuals who have a family history of the condition or are at risk of inheriting it. Prenatal testing is also available for pregnant women who may be carriers of the condition.

Overall, sickle cell anemia is a serious genetic disorder that can significantly impact quality of life and life expectancy if left untreated. However, with proper management and care, individuals with the condition can lead fulfilling lives and manage their symptoms effectively.

Sickle cell trait is relatively common in certain populations, such as people of African, Mediterranean, or Middle Eastern descent. It is estimated that about 1 in 12 African Americans carry the sickle cell gene, and 1 in 500 are homozygous for the trait (meaning they have two copies of the sickle cell gene).

Although people with sickle cell trait do not develop sickle cell anemia, they can experience certain complications related to the trait. For example, they may experience episodes of hemolytic crisis, which is a condition in which red blood cells are destroyed faster than they can be replaced. This can occur under certain conditions, such as dehydration or infection.

There are several ways that sickle cell trait can affect an individual's life. For example, some people with the trait may experience discrimination or stigma based on their genetic status. Additionally, individuals with sickle cell trait may be more likely to experience certain health problems, such as kidney disease or eye damage, although these risks are generally low.

There is no cure for sickle cell trait, but it can be managed through proper medical care and self-care. Individuals with the trait should work closely with their healthcare provider to monitor their health and address any complications that arise.

Overall, sickle cell trait is a relatively common genetic condition that can have significant implications for an individual's life. It is important for individuals with the trait to understand their risk factors and take steps to manage their health and well-being.

The main symptoms of hemosiderosis include:

1. Yellowish discoloration of the skin and eyes (jaundice)
2. Fatigue, weakness, and shortness of breath
3. Abdominal pain, nausea, and vomiting
4. Pale or clay-colored stools
5. Dark urine
6. Liver enlargement and tenderness
7. Heart failure
8. Arrhythmias (irregular heart rhythms)
9. Anemia
10. Weight loss and loss of appetite

Hemosiderosis is diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies such as ultrasound, CT scan, or MRI. Treatment options for hemosiderosis depend on the underlying cause of the condition and may include:

1. Iron chelation therapy to remove excess iron from the body
2. Blood transfusions to reduce iron levels
3. Dietary modifications to limit iron intake
4. Medications to manage symptoms such as anemia, liver failure, or heart problems
5. Surgery to remove affected tissues or organs in severe cases

It is important to seek medical attention if you experience any of the symptoms of hemosiderosis, especially if you have a history of excessive iron intake or chronic blood transfusions. Early diagnosis and treatment can help prevent complications and improve outcomes for this condition.

Delta-Thalassemia is classified into two main types: delta-plus-thalassemia and delta-beta-thalassemia. Delta-plus-thalassemia is the more severe form of the disorder and is characterized by a complete absence of delta-globin chain production, resulting in severe anemia and often death before the age of two. Delta-beta-thalassemia is a milder form of the disorder and is characterized by reduced production of delta-globin chains, which can lead to mild anemia or no anemia at all.

Delta-Thalassemia is inherited in an autosomal recessive pattern, meaning that a child must inherit two copies of the mutated HBB gene (one from each parent) to develop the disorder. Carriers of the disorder, who have one normal copy of the HBB gene and one mutated copy, are generally asymptomatic but can pass the mutated gene to their children.

There is currently no cure for delta-Thalassemia, but treatment options include blood transfusions, folic acid supplements, and bone marrow transplantation. The prognosis for patients with delta-Thalassemia depends on the severity of the disorder and can vary from mild to severe.

In hypochromic anemia, the RBCs are smaller than normal and have a lower concentration of hemoglobin. This can lead to a decrease in the amount of oxygen being carried to the body's tissues, which can cause fatigue, weakness, and shortness of breath.

There are several possible causes of hypochromic anemia, including:

1. Iron deficiency: Iron is essential for the production of hemoglobin, so a lack of iron can lead to a decrease in hemoglobin levels and the development of hypochromic anemia.
2. Vitamin deficiency: Vitamins such as vitamin B12 and folate are important for the production of red blood cells, so a deficiency in these vitamins can lead to hypochromic anemia.
3. Chronic disease: Certain chronic diseases, such as kidney disease, rheumatoid arthritis, and cancer, can lead to hypochromic anemia.
4. Inherited disorders: Certain inherited disorders, such as thalassemia and sickle cell anemia, can cause hypochromic anemia.
5. Autoimmune disorders: Autoimmune disorders, such as autoimmune hemolytic anemia, can cause hypochromic anemia by destroying red blood cells.

Hypochromic anemia is typically diagnosed through a combination of physical examination, medical history, and laboratory tests such as complete blood counts (CBCs) and serum iron studies. Treatment depends on the underlying cause of the anemia and may include dietary changes, supplements, medication, or blood transfusions.

Hemoglobin C disease is characterized by the presence of both normal hemoglobin (HbA) and abnormal hemoglobin (HbC) in red blood cells, which leads to a variety of symptoms and complications. The severity of the disease can range from mild to severe, depending on the specific mutations present and the percentage of HbC in the blood.

Symptoms of Hemoglobin C Disease:

The symptoms of hemoglobin C disease can vary in severity and may include:

1. Anemia: People with HbC disease often have lower than normal levels of red blood cells, which can lead to fatigue, weakness, and shortness of breath.
2. Jaundice: Yellowing of the skin and eyes due to high bilirubin levels can occur in severe cases of HbC disease.
3. Enlarged spleen: The spleen may become enlarged due to the accumulation of abnormal red blood cells.
4. Gallstones: People with HbC disease are at increased risk of developing gallstones.
5. Pain: Pain in the abdomen, joints, and other parts of the body can occur due to the abnormal hemoglobin.
6. Increased risk of infections: People with HbC disease may be more susceptible to infections due to their anemia and weakened immune system.
7. Delayed development: Children with HbC disease may experience delayed development and growth.

Complications of Hemoglobin C Disease:

Hemoglobin C disease can lead to a number of complications, including:

1. Stroke: People with HbC disease are at increased risk of stroke due to the abnormal hemoglobin.
2. Heart failure: The heart may become enlarged and fail to pump blood effectively due to the strain placed on it by the abnormal red blood cells.
3. Kidney damage: The kidneys may be damaged due to the accumulation of abnormal red blood cells.
4. Anemia: People with HbC disease may develop anemia, which can lead to fatigue, weakness, and shortness of breath.
5. Blood transfusions: Regular blood transfusions may be necessary to maintain healthy red blood cell levels.
6. Iron overload: The frequent blood transfusions can lead to iron overload, which can cause liver damage and other complications.
7. Increased risk of cancer: People with HbC disease may be at increased risk of developing certain types of cancer, such as leukemia.
8. Increased risk of thrombosis: The abnormal hemoglobin can increase the risk of blood clots and thrombosis.
9. Shortened lifespan: People with HbC disease may have a shorter lifespan compared to those without the condition.
10. Reduced quality of life: HbC disease can significantly impact an individual's quality of life, leading to fatigue, pain, and other symptoms that can affect daily activities and relationships.

It is important to note that these complications can be managed with proper medical care and attention. Regular monitoring and follow-up with a healthcare provider are crucial for managing the disease and preventing or minimizing these complications.

The disease is classified into two main types: Hemoglobin SC disease and Hemoglobin SE disease. Hemoglobin SC disease is the most common type of hemoglobinopathy and affects approximately 1 in 10,000 people worldwide. It is more common in certain ethnic groups, such as people of African, Mediterranean, and Southeast Asian descent.

Hemoglobin SC disease can cause a range of symptoms, including anemia, fatigue, jaundice, and infections. The disease can also lead to complications such as splenomegaly (enlargement of the spleen), gallstones, and heart problems. Treatment for Hemoglobin SC disease typically involves blood transfusions and management of related complications.

In summary, Hemoglobin SC disease is a genetic disorder that affects the production of hemoglobin and can cause a range of symptoms and complications. It is more common in certain ethnic groups and can be managed with blood transfusions and other treatments.

There are many different types of anemia, each with its own set of causes and symptoms. Some common types of anemia include:

1. Iron-deficiency anemia: This is the most common type of anemia and is caused by a lack of iron in the diet or a problem with the body's ability to absorb iron. Iron is essential for making hemoglobin.
2. Vitamin deficiency anemia: This type of anemia is caused by a lack of vitamins, such as vitamin B12 or folate, that are necessary for red blood cell production.
3. Anemia of chronic disease: This type of anemia is seen in people with chronic diseases, such as kidney disease, rheumatoid arthritis, and cancer.
4. Sickle cell anemia: This is a genetic disorder that affects the structure of hemoglobin and causes red blood cells to be shaped like crescents or sickles.
5. Thalassemia: This is a genetic disorder that affects the production of hemoglobin and can cause anemia, fatigue, and other health problems.

The symptoms of anemia can vary depending on the type and severity of the condition. Common symptoms include fatigue, weakness, pale skin, shortness of breath, and dizziness or lightheadedness. Anemia can be diagnosed with a blood test that measures the number and size of red blood cells, as well as the levels of hemoglobin and other nutrients.

Treatment for anemia depends on the underlying cause of the condition. In some cases, dietary changes or supplements may be sufficient to treat anemia. For example, people with iron-deficiency anemia may need to increase their intake of iron-rich foods or take iron supplements. In other cases, medical treatment may be necessary to address underlying conditions such as kidney disease or cancer.

Preventing anemia is important for maintaining good health and preventing complications. To prevent anemia, it is important to eat a balanced diet that includes plenty of iron-rich foods, vitamin C-rich foods, and other essential nutrients. It is also important to avoid certain substances that can interfere with the absorption of nutrients, such as alcohol and caffeine. Additionally, it is important to manage any underlying medical conditions and seek medical attention if symptoms of anemia persist or worsen over time.

In conclusion, anemia is a common blood disorder that can have significant health implications if left untreated. It is important to be aware of the different types of anemia, their causes, and symptoms in order to seek medical attention if necessary. With proper diagnosis and treatment, many cases of anemia can be successfully managed and prevented.

The endocrine system is a network of glands and hormones that regulate various bodily functions, such as growth, development, metabolism, and reproductive processes. Endocrine system diseases refer to disorders or abnormalities that affect one or more of the endocrine glands or the hormones they produce.

Types of Endocrine System Diseases:

1. Diabetes Mellitus (DM): A group of metabolic disorders characterized by high blood sugar levels due to insulin deficiency or insulin resistance.
2. Hypothyroidism: A condition where the thyroid gland does not produce enough thyroid hormones, leading to symptoms such as fatigue, weight gain, and cold intolerance.
3. Hyperthyroidism: A condition where the thyroid gland produces too much thyroid hormone, leading to symptoms such as anxiety, weight loss, and heart palpitations.
4. Cushing's Syndrome: A rare disorder caused by excessive levels of cortisol hormone in the body, leading to symptoms such as weight gain, high blood pressure, and mood changes.
5. Addison's Disease: A rare disorder caused by a deficiency of cortisol and aldosterone hormones in the body, leading to symptoms such as fatigue, weight loss, and dehydration.
6. Pituitary Gland Disorders: Tumors or cysts in the pituitary gland can affect the production of hormones that regulate other endocrine glands.
7. Adrenal Insufficiency: A condition where the adrenal glands do not produce enough cortisol and aldosterone hormones, leading to symptoms such as fatigue, weight loss, and dehydration.
8. Polycystic Ovary Syndrome (PCOS): A hormonal disorder that affects women of reproductive age, characterized by irregular menstrual cycles, cysts on the ovaries, and insulin resistance.
9. Graves' Disease: An autoimmune disorder that causes hyperthyroidism (an overactive thyroid gland), leading to symptoms such as rapid weight loss, nervousness, and heart palpitations.
10. Hashimoto's Thyroiditis: An autoimmune disorder that causes hypothyroidism (an underactive thyroid gland), leading to symptoms such as fatigue, weight gain, and depression.

These are just a few examples of endocrine disorders, and there are many more that can affect different parts of the endocrine system. It's important to be aware of the signs and symptoms of these disorders so that you can seek medical attention if you experience any unusual changes in your body.

Hereditary Hemochromatosis (HH):

Hereditary hemochromatosis is an inherited disorder that affects the body's ability to absorb iron. It is caused by a genetic mutation in the HFE gene, which codes for a protein involved in iron absorption. The mutated protein leads to excessive iron accumulation in the body, especially in the liver, pancreas, and other organs.

Symptoms of HH typically appear in adulthood and may include:

1. Fatigue and weakness
2. Joint pain and swelling
3. Abdominal discomfort and weight loss
4. Skin bronzing or darkening
5. Diabetes mellitus (type 2)
6. Heart problems, such as arrhythmias and heart failure
7. Liver cirrhosis and liver cancer
8. Infertility and sexual dysfunction

Acquired Hemochromatosis (AH):

Acquired hemochromatosis is a condition that develops in people who have chronic iron overload due to blood transfusions or other medical conditions that cause excessive iron accumulation. It can also occur in people with certain genetic mutations that affect iron metabolism.

Symptoms of AH may include:

1. Fatigue and weakness
2. Joint pain and swelling
3. Abdominal discomfort and weight loss
4. Skin bronzing or darkening
5. Diabetes mellitus (type 2)
6. Heart problems, such as arrhythmias and heart failure
7. Liver cirrhosis and liver cancer
8. Infertility and sexual dysfunction

Diagnosis of Hemochromatosis:

Hemochromatosis can be diagnosed through a combination of blood tests, imaging studies, and biopsies.

Blood Tests:

1. Serum iron and transferrin saturation: These tests measure the levels of iron in the blood and how well it is bound to transferrin, a protein that carries iron throughout the body. High levels of iron and low transferrin saturation can indicate hemochromatosis.
2. Ferritin: This test measures the level of ferritin, a protein that stores iron in the body. High levels of ferritin can indicate hemochromatosis.
3. Transferrin receptor gene analysis: This test can identify specific genetic mutations that cause hemochromatosis.

Imaging Studies:

1. Ultrasound: An ultrasound of the liver can show signs of cirrhosis or other liver damage caused by hemochromatosis.
2. CT or MRI scans: These tests can provide detailed images of the liver and other organs and tissues, helping doctors identify any damage caused by excessive iron accumulation.

Biopsies:

1. Liver biopsy: A liver biopsy involves removing a small sample of liver tissue for examination under a microscope. This test can help diagnose hemochromatosis and assess the extent of liver damage.
2. Biopsy of other organs: Biopsies of other organs, such as the pancreas or joints, may be performed to assess damage caused by hemochromatosis in these tissues.

It's important to note that not everyone with hemochromatosis will require all of these tests, and your healthcare provider will determine which tests are appropriate for you based on your symptoms and medical history.

Some common effects of chromosomal deletions include:

1. Genetic disorders: Chromosomal deletions can lead to a variety of genetic disorders, such as Down syndrome, which is caused by a deletion of a portion of chromosome 21. Other examples include Prader-Willi syndrome (deletion of chromosome 15), and Williams syndrome (deletion of chromosome 7).
2. Birth defects: Chromosomal deletions can increase the risk of birth defects, such as heart defects, cleft palate, and limb abnormalities.
3. Developmental delays: Children with chromosomal deletions may experience developmental delays, learning disabilities, and intellectual disability.
4. Increased cancer risk: Some chromosomal deletions can increase the risk of developing certain types of cancer, such as chronic myelogenous leukemia (CML) and breast cancer.
5. Reproductive problems: Chromosomal deletions can lead to reproductive problems, such as infertility or recurrent miscarriage.

Chromosomal deletions can be diagnosed through a variety of techniques, including karyotyping (examination of the chromosomes), fluorescence in situ hybridization (FISH), and microarray analysis. Treatment options for chromosomal deletions depend on the specific effects of the deletion and may include medication, surgery, or other forms of therapy.

There are two main types of hemolysis:

1. Intravascular hemolysis: This type occurs within the blood vessels and is caused by factors such as mechanical injury, oxidative stress, and certain infections.
2. Extravascular hemolysis: This type occurs outside the blood vessels and is caused by factors such as bone marrow disorders, splenic rupture, and certain medications.

Hemolytic anemia is a condition that occurs when there is excessive hemolysis of RBCs, leading to a decrease in the number of healthy red blood cells in the body. This can cause symptoms such as fatigue, weakness, pale skin, and shortness of breath.

Some common causes of hemolysis include:

1. Genetic disorders such as sickle cell anemia and thalassemia.
2. Autoimmune disorders such as autoimmune hemolytic anemia (AIHA).
3. Infections such as malaria, babesiosis, and toxoplasmosis.
4. Medications such as antibiotics, nonsteroidal anti-inflammatory drugs (NSAIDs), and blood thinners.
5. Bone marrow disorders such as aplastic anemia and myelofibrosis.
6. Splenic rupture or surgical removal of the spleen.
7. Mechanical injury to the blood vessels.

Diagnosis of hemolysis is based on a combination of physical examination, medical history, and laboratory tests such as complete blood count (CBC), blood smear examination, and direct Coombs test. Treatment depends on the underlying cause and may include supportive care, blood transfusions, and medications to suppress the immune system or prevent infection.

Symptoms of hemolytic anemia may include fatigue, weakness, shortness of breath, dizziness, headaches, and pale or yellowish skin. Treatment options depend on the underlying cause but may include blood transfusions, medication to suppress the immune system, antibiotics for infections, and removal of the spleen (splenectomy) in severe cases.

Prevention strategies for hemolytic anemia include avoiding triggers such as certain medications or infections, maintaining good hygiene practices, and seeking early medical attention if symptoms persist or worsen over time.

It is important to note that while hemolytic anemia can be managed with proper treatment, it may not be curable in all cases, and ongoing monitoring and care are necessary to prevent complications and improve quality of life.

The primary symptom of Gilbert disease is jaundice (yellowing of the skin and eyes), which can be triggered by alcohol consumption or certain medications. Other symptoms may include fatigue, weakness, weight loss, and joint pain. If left untreated, the condition can lead to more serious complications such as liver damage, heart problems, and an increased risk of certain types of cancer.

Treatment for Gilbert disease typically involves avoiding alcohol and taking vitamin supplements to reduce iron levels in the body. In severe cases, medications such as deferoxamine may be prescribed to remove excess iron from the body. Regular monitoring of iron levels and liver function is also important to prevent complications.

Gilbert disease is relatively rare, affecting about one in 100 people of Northern European ancestry. However, it is often misdiagnosed or undiagnosed, as its symptoms can be similar to those of other conditions such as anemia or liver disease. A blood test can confirm the presence of the HFE gene mutation and diagnose Gilbert disease.

Overall, while Gilbert disease can cause significant discomfort and health risks if left untreated, it is a manageable condition with proper medical care and lifestyle adjustments.

There are two main types, alpha thalassemia and beta thalassemia. The severity of alpha and beta thalassemia depends on how ... Mild thalassemia: people with thalassemia traits do not require medical or follow-up care after the initial diagnosis is made. ... Thalassemia at Curlie Learning About Thalassemia published by the National Human Genome Research Institute. (All articles with ... "Thalassemia Complications". Thalassemia. Open Publishing. Archived from the original on 3 October 2011. Retrieved 27 September ...
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 ... usually as a result of beta thalassemia) Delta-thalassemia Hemoglobinopathy "Beta thalassemia". Genetics Home Reference. ...
... (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 and HBA2. Thalassemias are ... of the population carry alpha-thalassaemia genes. Beta-thalassemia Delta-thalassemia Hemoglobinopathy Origa, Raffaella; Moi, ... Alpha thalassemia can also be acquired under rare circumstances. The mechanism sees that α thalassemias results in decreased ... Diagnosis of alpha-thalassemia is primarily by laboratory evaluation and molecular diagnosis. Alpha-thalassemia can be mistaken ...
... can mask the diagnosis of beta thalassemia trait. In beta thalassemia, an increase in hemoglobin A2 ... Alpha thalassemia Beta-thalassemia Hemoglobinopathy "Delta-beta-thalassemia". Orphanet. Orphanet. Retrieved 16 September 2016 ... 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 ...
Severe thalassemia : Patients with severe thalassemia require medical treatment. A blood transfusion regimen was the first ... Patients with thalassemia gradually accumulate high levels of iron (Fe) in their bodies. This build-up of iron may be due to ... Patients with β-thalassemia trait should be warned that their condition can be misdiagnosed for the common Iron deficiency ... Thalassemia results in nontransferrin-bound iron being available in blood as all the transferrin becomes fully saturated. This ...
... is caused by inheritance of a sickle cell allele from one parent and a beta thalassemia allele ... Sickle cell-beta thalassemia is an inherited blood disorder. The disease may range in severity from being relatively benign and ... "Hemoglobin S- β -Thalassemia Disease - Hematology and Oncology". Retrieved 2015-06-18. "Newborn Screening Program - Sickle Cell ... Patients with sickle cell-beta thalassemia may present with painful crises similar to patients with sickle cell disease[ ...
"Thalassemia". The Lecturio Medical Concept Library. Retrieved 27 July 2021. Kalakonda, Aditya; Jenkins, Bianca A.; John, Savio ... These diseases may cause jaundice due to increased erythrocyte hemolysis: Sickle-cell anemia Spherocytosis Thalassemia Pyruvate ...
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+ ... Beta thalassemia major is a severe medical condition. A severe anemia is seen starting at 6 months of age. Without medical ...
In β thalassemia major the beta hemoglobin chain is completely absent, rendering an increase in fetal hemoglobin (HbF). Alam, ... The underlying cause can be attributed to various anemias, most often; beta thalassemia major, a form of microcytic anemia. ... Galanello, Renzo; Origa, Raffaella (2010-05-21). "Beta-thalassemia". Orphanet Journal of Rare Diseases. 5: 11. doi:10.1186/1750 ...
"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 ...
"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". Genetics Home Reference. U.S. National Library of Medicine. February 27, 2011. Retrieved 3 March 2011. " ...
Alpha-thalassemia. Normal adult hemoglobin is composed of two alpha and two beta chains. Alpha thalassemia patients have ...
Galanello R, Origa R (May 2010). "Beta-thalassemia". Orphanet Journal of Rare Diseases. 5: 11. doi:10.1186/1750-1172-5-11. PMC ... Robinson S, Vanier T, Desforges JF, Schmid R (September 1962). "Jaundice in thalassemia minor: a consequence of "ineffective ... Other less commonly observed causes of hemolysis include: Hemolysis secondary to drug toxicity Thalassemia minor Congenital ... thalassemia minor, and congenital dyserythropoietic anemias. Pathophysiology of hemolytic jaundice directly involves the ...
Thalassemia Reports. 3 (1s): 108. doi:10.4081/thal.2013.s1.e43. Clinical trial number NCT01639690 for "β-Thalassemia Major With ... Beta thalassemia major is an inherited blood disease in which beta haemoglobin is missing and patients are dependent on regular ... Tong A (3 June 2019). "EU stamps historic OK on bluebird's gene therapy for β-thalassemia - now sit back and wait for the price ... The FDA approved Phase I clinical trials on thalassemia major patients in the US for 10 participants in July. The study was ...
August 1998). "Long-term safety and effectiveness of iron-chelation therapy with deferiprone for thalassemia major". The New ... Rund D, Rachmilewitz E (September 2005). "Beta-thalassemia". The New England Journal of Medicine. 353 (11): 1135-46. doi: ... double-blind trial of the effect of combined therapy with deferoxamine and deferiprone on myocardial iron in thalassemia major ... "An investigation into variability in the therapeutic response to deferiprone in patients with thalassemia major". Therapeutic ...
Beta thalassemia is caused by mutations to or deletions of the HBB gene leading to reduced or absent synthesis of the beta ... 2014). "Initial Results from the Northstar Study (HGB-204): A Phase 1/2 Study of Gene Therapy for β-Thalassemia Major Via ... Betibeglogene autotemcel, sold under the brand name Zynteglo, is a medication for the treatment for beta thalassemia. It was ... "FDA Approves First Cell-Based Gene Therapy to Treat Adult and Pediatric Patients with Beta-thalassemia Who Require Regular ...
HBA2 Thalassemia, Hispanic gamma-delta-beta; 604131; LCRB Thalassemia-beta, dominant inclusion-body; 603902; HBB Thalassemias, ... ACAT1 Alpha-thalassemia myelodysplasia syndrome, somatic; 300448; ATRX Alpha-thalassemia mental retardation syndrome; 301040; ... alpha-; 604131; HBA1 Thalassemias, beta-; 604131; HBB Thanatophoric dysplasia, type I; 187600; FGFR3 Thiamine-responsive ... CYCS Thrombocytopenia with beta-thalassemia, X-linked; 314050; GATA1 Thrombocytopenia, congenital amegakaryocytic; 604498; MPL ...
"What is Thalassemia?". UCSF Benioff Children's Hospital. Retrieved March 8, 2017. "Symptoms and causes - Mayo Clinic". Mayo ... Furthermore, the large presence of thalassemia (Hb H), a disorder in which the alpha gene is dysfunctional, in Southeast Asia ...
Hemoglobin variants Hemoglobinopathy Thalassemia What is Thalassemia? Hemoglobin H Disease and its Variants Hemoglobinopathiesm ... It is the most common nondeletional alpha-thalassemia mutation associated with hemoglobin H disease. The quantity of hemoglobin ...
Chronic conditions such as sickle cell disease and thalassemia, cystic fibrosis, HIV/AIDS, hypothyroidism, chronic kidney ... Castaldi MA, Cobellis L (June 2016). "Thalassemia and infertility". Human Fertility. 19 (2): 90-6. doi:10.1080/14647273.2016. ...
Silent' β-thalassaemia caused by a 'silent' β-chain mutant: the pathogenesis of a syndrome of thalassaemia intermedia. Phaedon ... "The derangement of hemoglobin synthesis in thalassemia". Among his numerous contributions to the field of thalassemia, some of ... He also studied the incidence and distribution of thalassemia in the Greek population, which ultimately led to the design of a ... After his retirement he remained close to the university and the Thalassemia Center offering his services in every way. He ...
Diagnosis is made by DNA analysis for alpha thalassemia and hemoglobin analysis for beta thalassemia. Management of thalassemia ... Thalassemia is an inherited condition that has variants in alpha or beta globin genes that result in lower levels of globin ... The outlook for thalassemia depends on its severity and how consistently it is treated. The most severe forms may cause ... Thalassemias are treated differently depending on severity. Mild cases may be treated with the prescription of a folic acid ...
Depending upon how the terms are being defined, thalassemia can be considered a cause of microcytic anemia, or it can be ... Microcytic anemia is not caused by reduced DNA synthesis[citation needed]. Thalassemia can cause microcytosis. ...
with G.I. Abu-Haydar and N.A. Abu-Haydar) "Thalassemia Hemoglobin E. Disease. A Case Report from Quatar." Persian Gulf, Man., ... "Iron Absorption in Thalassemia." Abstr. IXth Congr. Int. Soc. Haemat. (Stockholm, 1964.) Mishalany, H (April 1973). "Professor ...
"Thalassemia day care centre opened". The New Indian Express. 25 August 2013. "Thalassemia: The growing challenge". Deccan ... Mangalore Jai Shivshakti Center For Thalassemia, Jawaharlal Nehru Medical College, Belgaum Thalassemia and Sickle Cell Centre, ... "Thalassaemia day-care centre to open today". The Hindu. Retrieved 2 September 2017. "People remember Tsunami victims". The ... "Hope for Bengaluru kids with thalassemia". The Times of India. 28 August 2015. "MY Hospital eyes high rate of success in BMT". ...
... 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 ... Wu MY, Xie XM, Li J, Li DZ (October 2015). "Neonatal screening for α-thalassemia by cord hemoglobin Barts: how effective is it ...
Diamond was researching the Beta Thalassemia genetic trait, which he suspected was present in Ashkenazi Jewish families in his ... Diamond, Stanley M. (3 August 2004). "About the beta-thalassemia project". DiamondGen. Retrieved 14 March 2016. Burstein, ...
... thalassemia; (g) genetically, e.g. Huntington's disease, cystic fibrosis; and (h) syndrome, e.g. migraine, torticollis, ...
suggested a prenatal genetic test for Thalassemia that did not rely upon DNA sequencing-then in its infancy-but on restriction ... Application to prenatal diagnosis of beta 0 thalassemia in Sardinia". The New England Journal of Medicine. 302 (4): 185-8. doi: ... "Molecular Diagnostics of β-Thalassemia". Balkan Journal of Medical Genetics. 15 (Suppl): 61-5. doi:10.2478/v10034-012-0021-z. ... molecular diagnostic techniques for Thalassemia use genetic hybridization tests to identify the specific single nucleotide ...
Chronic use of deferoxamine may increase the risk of hearing loss in patients with thalassemia major. Chronic use of ... Acquired hemochromatosis is common in patients with certain types of chronic anemia (e.g. thalassemia and myelodysplastic ... Taher, Ali T.; Musallam, Khaled M.; Cappellini, M. Domenica (25 February 2021). "β-Thalassemias". New England Journal of ... "The effect of iron chelation therapy on overall survival in sickle cell disease and β-thalassemia: A systematic review". Am. J ...
Locations and contact information for each of the thalassemia treatment centers previously funded by CDC. ... Selected Thalassemia Treatment Centers. The Childrens Hospital of Boston. Director: Erica Esrick, MD. Contact: Jennifer Eile, ... Penn Comprehensive Adult Thalassemia Program, Hospital of the University of Pennsylvania. Director: Farzana Sayani MD, MSc. ... Below are the locations and contact information for each of the thalassemia treatment centers previously funded by CDC. ...
Beta thalassemia is a blood disorder that reduces the production of hemoglobin . Explore symptoms, inheritance, genetics of ... Thalassemia intermedia is milder than thalassemia major. The signs and symptoms of thalassemia intermedia appear in early ... and thalassemia intermedia (which is a non-transfusion-dependent thalassemia). Of the two types, thalassemia major is more ... Thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern. , which means both copies of the ...
1995)‎. SEA/RC48/R3 - Prevention, Control and Treatment of Thalassaemia. WHO Regional Office for South-East Asia. https://apps. ...
Interleukins 12 and 13 levels among beta-thalassaemia major patients  Hashad, R.A.; Hamed, N.A.; El Gharabawy, M.M.; El ... To estimate beta-thalassaemia carrier rate and to determine an accurate mass screening test, we tested 1000 randomly selected ... In the present study, the aim was to explore the quality of life of thalassaemia major [‎TM]‎ patients according to age, sex, ... Quality of life of Iranian beta-thalassaemia major patients living on the southern coast of the Caspian Sea  ...
Thalassemia. beta-Thalassemia. Anemia, Hemolytic, Congenital. Anemia, Hemolytic. Anemia. Hematologic Diseases. ... Genetic and Rare Diseases Information Center resources: Thalassemia Beta-thalassemia Sickle Cell Anemia ... Stem Cell Transplant in Sickle Cell Disease and Thalassemia. The safety and scientific validity of this study is the ... Beta thalassemia is another genetic disorder in which there are abnormal beta hemoglobin chains, causing anemia. In both ...
Startseite/TIF Publications/Explaining Gene Therapy in thalassaemia (2020). TIF PublicationsPublications Explaining Gene ... NEW HOPE FOR THALASSAEMIA/SCD , UK Trial Of Lab Grown Red Blood Cells Begins ... ADVANCED THERAPIES , Vertex, CRISPR To Submit Exa-Cel to FDA For β-Thalassaemia And Sickle Cell Disease ... Prevention of Inherited Diseases - The Example of β-Thalassaemia (2020). Juni 3, 2020 ...
She has got the required tests done and has found that the unborn child is thalassaemia minor and will not require to undergo ... Has there been any successful stem cell transplant for thalassaemia, if yes, can we have the reference of the concerned family. ... He is thalassaemia major and now my sister is expecting her second child and is running the fifth month of pregnancy. ... He is thalassaemia major and now my sister is expecting her second child and is running the fifth month of pregnancy. She has ...
Find support organizations and financial resources for Thalassemia. ...
Thalassaemia can be fatal as a lot of blood transfusions are needed and, over time, an influx of haemoglobin can lead to a ... International Thalassaemia Day: Dubai teen cured of debilitating blood condition Teen given new lease of life after he was ... With International Thalassaemia Day being marked on May 8, Husseins message for others with the disease is: "Never give up ... Thalassaemia - carried by 8.5 per cent of Emiratis - could be wiped out soon in the UAE, doctors say ...
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A reduced mean corpuscular volume (MCV) of of b-thalassaemia trait, five cases of a-thalassaemia trait and one case of db- ... thalassaemia trait. Based on these figures the estimated prevalence rates of b-, a- and db-thalassaemia traits in Baghdad, ... Abstract To estimate the prevalence of thalassaemia genes in Baghdad, a study was made of 502 randomly selected pregnant women ... While a-thalassaemia has never been a health problem in Iraq, b-thalassaemia in its homozygous state is [5]. It is the authors ...
... to discriminate between possible severe a-thalassaemia or HbH disease and other a-thalassaemia phenotypes. Retrospectively, if ... Method: DNA analysis for a-thalassaemia was performed on 91 dried blood spot samples presenting normal and elevated FAST peak ... Relationship between neonatal screening results by HPLC and the number of a-thalassaemia gene mutations; Consequences for the ... Results: Significant differences were found between samples with and without a-thalassaemia mutations, regardless of the ...
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This site is dedicated exclusively to helping you look up ICD-10 codes, quickly access the codes you use most, and become more comfortable with the new code set in general. No ads, no spam, and its free for everybody.. Our hope is that we can ease your search for ICD-10 codes just a little, and maybe even make it fun.. Also, for good measure you should read this (legal disclaimer).. And heres our privacy policy.. ...
Thalassemia results when mutations affecting the genes involved in Hb biosynthesis lead to decreased Hb production. The ... The common forms include alpha and beta thalassemias depending on the gene affected. ...
Around 3.0-10.0% of the population carry β-thalassemia (β-thal) and 2.6-11.0% of the population carry α-thalassemia (α-thal). ... Around 3.0-10.0% of the population carry β-thalassemia (β-thal) and 2.6-11.0% of the population carry α-thalassemia (α-thal). ... Around 3.0-10.0% of the population carry β-thalassemia (β-thal) and 2.6-11.0% of the population carry α-thalassemia (α-thal). ... Around 3.0-10.0% of the population carry β-thalassemia (β-thal) and 2.6-11.0% of the population carry α-thalassemia (α-thal). ...
Sickle cell disease or thalassemia. Having hemoglobin blood disorders like sickle cell disease or thalassemia (inherited red ... Thalassemia. Smoking, current or former. Being a current or former cigarette smoker can make you more likely to get very sick ...
The Friends of Thalassemia Patients Association is a non-profit Palestinian association founded in 1996 by a group of patients ...
Alpha Thalassemia information, news, and community
Thalassemia - Pain of a Mother!. by letshelpsome1on Posted on September 12, 2018. ...
Decrease quantity for Beta Thalassemia: HBB Increase quantity for Beta Thalassemia: HBB ... Confirm a clinical diagnosis of β-thalassemia; detect carriers; help to establish a prognosis ...
On The Occasion Of World Thalassaemia Day Picnic For Our Thalassemia Patients To Wonderla May 8, 2023 ... Thalassemia and Sickle Cell Society (TSCS) organized the felicitation ceremony of Blood Donation Camp organizers on 20th July ... World Thalassemia Day: TSCS, IAP organise Walk for a Cause at Necklace Road May 8, 2023 ... Thalassemia and Sickle Cell Society (TSCS) organized the felicitation ceremony of Blood Donation Camp organizers.. ...
... launched the III phase of the Thalassemia Bal Sewa Yojana (TBSY) to commemorate World Thalassemia Day (May 8). ... launched the III phase of the Thalassemia Bal Sewa Yojana (TBSY) to commemorate World Thalassemia Day (May 8). ... World Thalassemia Day: The Ministry of Health and Family Welfare (MoH&FW) ... World Thalassemia Day: The Ministry of Health and Family Welfare (MoH&FW) ...
A Cure for Thalassemia in Rs 10 By Team Htv 11 May, 2015. ... Thalassemia is an inherited blood disorder in which the body ... "Treating children with Thalassemia is one thing, but prevention is something that we need the most as it will save children ... "There are 9.8 million carriers of this disease in the country", he said, "If the new drug is applied to Thalassemia children Rs ... Saqib Hussain Ansari while speaking at a seminar on Thalassemia said our medicine is making wonders putting lives on normal ...
... * Thalassemia Patients and Friends ... My name is Ricardo and my son Gabriel has Thalassemia Intermedia. We live in Brazil. Gabriels 17 years old and will finish ... Student program in Australia for people with Thalassemia. « on: May 15, 2023, 08:36:25 PM » ...
... physicians treating adult and pediatric patients 3 years of age and older with transfusional iron overload due to thalassemia. ... Guidelines for the Management of Transfusion Dependent Thalassaemia (TDT)[Internet]. 3rd edition. Nicosia (CY): Thalassaemia ... Iron monitoring in thalassemia. Measures of iron burden should be monitored regularly in patients receiving chronic transfusion ... thalassemia.com/documents/monitoring-iron-overload-in-transfusion-dependent-thalassemia.pdf ...
The death rate is 3X higher among people with transfusion-dependent thalassemia and sickle cell disease with transfusional iron ... Based on a total of 1,073 patients diagnosed with transfusion-dependent thalassemia before the age of 3. Click here to read the ... 60-70% of deaths in people with transfusion-dependent thalassemia are due to heart complications and disease† ... 142 people with transfusion dependent thalassemia and 199 people with sickle cell disease who received regular transfusions ...
In α thalassemia, the synthesis of α-globin chains is downregulated so that in fetal life there is anemia and the excess γ- ... α Thalassemia most commonly results from the deletion of one (-α) or both (--) α genes from chromosome 16. Carriers of α ... In adult life, α thalassemia also causes anemia but, because by this time the γ to β switch is complete, the excess non-α ... thalassemia (-α/αα and --/αα) have mild hypochromic microcytic anemia and may produce detectable amounts of Hb Barts at birth. ...
  • If you have thalassemia, your body may not make enough hemoglobin, which can lead to fewer healthy red blood cells. (nih.gov)
  • Beta-thalassemia is a blood disorder that reduces the body's production of hemoglobin. (nih.gov)
  • In people with beta thalassemia, low levels of hemoglobin reduce oxygen levels in the body. (medlineplus.gov)
  • Workup in alpha thalassemia relies primarily on laboratory evaluation, hemoglobin electrophoresis, and genetic testing (alpha thalassemia mutations panel). (medscape.com)
  • Alpha thalassemia combined with sickle-cell anemia results in a higher hemoglobin concentration and improved RBC survival. (medscape.com)
  • In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. (nih.gov)
  • The more severe type is known as hemoglobin Bart hydrops fetalis syndrome, which is also called Hb Bart syndrome or alpha thalassemia major. (nih.gov)
  • Beta thalassemia is another genetic disorder in which there are abnormal beta hemoglobin chains, causing anemia. (clinicaltrials.gov)
  • Most conservative estimates suggest that at least 5.2% of the world population (over 360 million) carry a significant hemoglobin variant [ 1 ] and in excess of 100 million beta thalassemia carriers with a global frequency of 1.5% [ 2 ]. (biomedcentral.com)
  • The inherited beta thalassemias including sickle cell anemia and hemoglobin E (HbE) disorders are the most frequent single gene disorders globally [ 1 ]. (biomedcentral.com)
  • Alpha-thalassemia is a genetic disorder where there's a deficiency in production of the alpha globin chains of hemoglobin, which is the oxygen-carrying protein in red blood cells. (osmosis.org)
  • Both beta thalassemia and SCD are caused by gene defects that lead to abnormal forms of hemoglobin. (nih.gov)
  • Fetal hemoglobin is thought to prevent cells from becoming sickle-shaped and blocking blood flow in SCD, and fetal hemoglobin can replace deficient hemoglobin in beta thalassemia. (nih.gov)
  • The beta thalassemias and hemoglobinopathies are types of genetic diseases with early mortality caused by molecular mutations affecting the beta globin chain of adult hemoglobin A. Reactivating expression of developmentally silenced fetal globin genes, which can functionally substitute for deficient beta globin in beta thalassemia and inhibit sickling in the sickle syndromes, is one accepted approach to therapy. (nih.gov)
  • of hemoglobin typing test with blood sample, diagnosis for thalassemia disease. (web.app)
  • Or, depending on the type of thalassemia you have and how serious it is, you may have no symptoms at all. (nih.gov)
  • There are two main forms of Beta-thalassemia, classified based on the severity of symptoms: Thalassemia major (also called Cooley's anemia) - the more severe form, causing severe anemia and enlarged liver and spleen (hepatosplenomegaly). (nih.gov)
  • People who have only one HBB genetic change (carriers) typically are said to have thalassemia minor (or trait) and usually do not have symptoms, but may have some symptoms of anemia. (nih.gov)
  • In this case, a person has only one mutated HBB gene, but has signs and symptoms of Beta-thalassemia major or Beta-thalassemia intermedia. (nih.gov)
  • When Do Symptoms of Beta-thalassemia Begin? (nih.gov)
  • Beta thalassemia is classified into two types depending on the severity of symptoms: thalassemia major (also known as transfusion-dependent thalassemia or Cooley's anemia) and thalassemia intermedia (which is a non-transfusion-dependent thalassemia). (medlineplus.gov)
  • The signs and symptoms of thalassemia major appear within the first 2 years of life. (medlineplus.gov)
  • Many people with thalassemia major have such severe symptoms that they need frequent blood transfusions to replenish their red blood cell supply. (medlineplus.gov)
  • The signs and symptoms of thalassemia intermedia appear in early childhood or later in life. (medlineplus.gov)
  • In these cases, one copy of the altered gene in each cell is sufficient to cause the signs and symptoms of beta thalassemia. (medlineplus.gov)
  • These individuals typically have no thalassemia-related signs or symptoms. (nih.gov)
  • If a person has two defective alpha genes, the person has alpha thalassemia minor, which causes mild symptoms. (osmosis.org)
  • Thalassemia: Causes, Symptoms, Diagnosis, and Treatment (1) - Thalassemia is a genetic blood disorder which leads to abnormal production of haemoglobin and red blood cells. (web.app)
  • Alpha thalassemia typically results from deletions involving the HBA1 and HBA2 genes. (nih.gov)
  • Less commonly, changes to the DNA sequence in or near these genes cause alpha thalassemia. (nih.gov)
  • In case of alpha thalassemia, at least one of the alpha globin genes has an abnormality. (indiatimes.com)
  • In beta thalassemia, the beta globin genes are affected. (indiatimes.com)
  • One can only prevent thalassemia as it is inherited (passed from parents to children via genes). (indiatimes.com)
  • To estimate the prevalence of thalassaemia genes in Baghdad, a study was made of 502 randomly selected pregnant women attending a major maternity care clinic in the city. (who.int)
  • Some studies have focused on the prevalence of thalassaemia genes in some Middle Eastern countries [1-4], but none were from Iraq, in spite of evidence suggesting that thalassaemias are not uncommon among Iraqis [5]. (who.int)
  • Conclusion: This study confirms that the percentage HbBart's, as depicted by the FAST peak, is only a relative indication for the number of a genes affected in a-thalassaemia. (eur.nl)
  • And alpha thalassemia is caused by mutations in the alpha genes, most commonly a gene deletion. (osmosis.org)
  • Most cases of α-thalassemia are caused by deletion of 1 or more of the 4 α-globin genes present in healthy individuals. (web.app)
  • Mutated Thalassemia Alpha (+) thalassemia -More than 15 different genetic mutations that result in decreased production of α -globin usually due to the functional deletion of 1 of the 4 alpha globin genes. (web.app)
  • Further classification of Alpha (+) thalassemia: A- Thalassemia (-α/α α) Characterized by inheritance of 3 normal α-genes. (web.app)
  • Indonesia is located along the 'Thalassemia Belt' and a hotspot for hemoglobinopathies. (ui.ac.id)
  • Two types of alpha thalassemia can cause health problems. (nih.gov)
  • The different types of alpha thalassemia result from the loss or alteration of some or all of these alleles. (nih.gov)
  • Two main types of alpha thalassemia are described as alpha thalassemia Therefore, family and ethnic history can be very helpful in leading to a correct diagnosis. (web.app)
  • people with both types have been diagnosed with thalassemia major and thalassemia intermedia. (medlineplus.gov)
  • Danish has been diagnosed with Thalassemia major and he needs a bone marrow transplant to recover. (milaap.org)
  • The alpha thalassemia (α-thalassemia) syndromes are a group of hereditary anemias of varying clinical severity. (medscape.com)
  • [ 10 ] Individuals with beta thalassemia syndromes have somewhat better protection against malaria than individuals with alpha thalassemia syndromes. (medscape.com)
  • Luspatercept: A Review in Transfusion-Dependent Anaemia due to Myelodysplastic Syndromes or β-Thalassaemia. (nih.gov)
  • Thalassaemia syndromes are inherited defects in the rate of synthesis of one or more of the globin chains of haemoglobin. (who.int)
  • Thalassemia syndromes are caused by an absence or ineffective synthesis of beta globin chains. (biomedcentral.com)
  • NIH investment would allow translation of basic science to be brought into clinical trials in three patient populations (beta thalassemia, sickle cell anemia, and potentially myelodysplastic syndromes). (nih.gov)
  • The thalassaemia syndromes / D. J. Weatherall and J. B. Clegg. (who.int)
  • Variants (also known as mutations) in the HBB gene cause beta thalassemia. (medlineplus.gov)
  • Many laboratories now perform a panel for seven alpha thalassemia gene mutations, which could identify the precise genotypic status of the patient. (medscape.com)
  • A) with Deletional and Nondeletional a + -Thalassemia Mutations: Diverse Hematological and Clinical Features. (medscape.com)
  • 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)
  • Results: Significant differences were found between samples with and without a-thalassaemia mutations, regardless of the genetic profiles. (eur.nl)
  • Over 80 ß- thalassemia (ß-thal) mutations have been characterized in Indians. (bvsalud.org)
  • Alpha thalassaemia in tribal communities of coastal Maharashtra, India. (medscape.com)
  • India ranks the list when it comes to thalassaemia. (indiatimes.com)
  • You should get in touch with Department of Haematology, Christian Medical College, Vellore or Department of Haematology, All India Institute of Medical Sciences (AIIMS) for stem cell treatment of thalassaemia. (ndtv.com)
  • Two families from southern India with members having the clinical manifestations of thalassemia intermedia are presented. (karger.com)
  • Most information on thalassemia in South Asia comes from studies conducted in India. (biomedcentral.com)
  • Due to extreme heterogeneity, an uneven frequency of beta thalassemia heterozygote or carrier in the range of 1 and 10% has been reported throughout different parts of India [ 2 ]. (biomedcentral.com)
  • Thalassemia in India. (bvsalud.org)
  • A loss of two of the four alpha-globin alleles results in alpha thalassemia trait. (nih.gov)
  • People with alpha thalassemia trait may have unusually small, pale red blood cells and mild anemia. (nih.gov)
  • If both parents are missing at least one alpha-globin allele, their children are at risk of having Hb Bart syndrome, HbH disease, or alpha thalassemia trait. (nih.gov)
  • A simple blood test called Hb electrophoresis or Hb A2 can indicate whether you are a carrier or have a trait of thalassemia minor. (indiatimes.com)
  • a-thalassaemia trait, on the other hand, was diagnosed in five subjects, based on the presence of microcytosis, with normal Hb A 2 and F and normal serum ferritin level (i.e. by exclusion of b- and db-thalassaemia, and iron deficiency as causes of microcytosis). (who.int)
  • Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. (medscape.com)
  • We assessed the prevalence of three common hereditary blood disorders [‎sickle-cell and beta-thalassaemia traits and glucose 6-phosphate dehydrogenase deficiency]‎ among the Omani population. (who.int)
  • In each year, over 50,000 new patients are born with a severe form of thalassemia (beta-thalassemia major and HbE beta thalassemia) worldwide. (biomedcentral.com)
  • In many Asian countries, the most common form of thalassemia results from the coinheritance of beta thalassemia and HbE. (biomedcentral.com)
  • Alpha thalassemia is the result of reduction in the synthesis of the alpha globin chains and a form of thalassemia involving the gene HbA 1 and HbA 2 [9,10]. (web.app)
  • If you have a child with thalassemia, talk to your child's healthcare provider about how to transition from pediatric to adult care before the time comes. (nih.gov)
  • Simple blood tests can help couples identify the risks of having a child with thalassemia or other genetic disorders. (indiatimes.com)
  • Thalassemia intermedia - the less severe form causing milder anemia that does not require regular blood transfusions. (nih.gov)
  • This means that people with thalassemia major or thalassemia intermedia have a genetic change in both of their copies of the HBB gene. (nih.gov)
  • Thalassemia intermedia is milder than thalassemia major. (medlineplus.gov)
  • Beta thalassemia is a fairly common blood disorder worldwide. (medlineplus.gov)
  • Thalassemia is a genetic, blood disorder. (indiatimes.com)
  • Beta thalassemia is a rare, inherited blood disorder that causes severe anemia and damage to organs. (nih.gov)
  • INTRODUCTION Thalassemia is an inherited autosomal recessive blood disorder. (web.app)
  • The role of inflammatory cytokines in the pathophysiology of beta-thalassaemia is still unclear. (who.int)
  • Very rarely, the inheritance of Beta-thalassemia may be dominant. (nih.gov)
  • The inheritance of alpha thalassemia is complex. (nih.gov)
  • Major complications in people who have thalassemia are usually caused by iron buildup in the blood (iron overload). (nih.gov)
  • In the present study, the aim was to explore the quality of life of thalassaemia major [‎TM]‎ patients according to age, sex, school performance, severity and complications of the disease. (who.int)
  • Despite the fact that Bangladesh lies in the world's thalassemia belt, the information on different aspects (epidemiology, clinical course, mortality, complications and treatment outcomes) of thalassemias is lacking. (biomedcentral.com)
  • Objectives: To evaluate the relationship between FAST peak percentage by adapted Bio-Rad Vnbs analysis using the valley-to-valley integration and genotypes with the aim to improve differentiation between severe a-thalassaemia forms (HbH disease) and the milder disease types. (eur.nl)
  • Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. (medscape.com)
  • Iron overload can be caused by thalassemia, but it most often comes from regular blood transfusions . (nih.gov)
  • Repeated blood transfusions in patients with thalassaemia subject them to peroxidative tissue injury by secondary iron overload. (who.int)
  • The leading cause of death among people who have thalassemias is heart disease caused by iron overload. (hoacny.com)
  • Beta Thalassemia patients receiving chemotherapy (Busulfan, Fludarabine and Alemtuzumab) will undergo allogeneic stem cell transplant. (clinicaltrials.gov)
  • Does stem cell transplant help in thalassaemia? (ndtv.com)
  • Home » Frequently asked Questions on Health » Does stem cell transplant help in thalassaemia? (ndtv.com)
  • Has there been any successful stem cell transplant for thalassaemia, if yes, can we have the reference of the concerned family. (ndtv.com)
  • Beta-thalassemia is caused by genetic changes in the HBB gene and is typically inherited in an autosomal recessive manner. (nih.gov)
  • Standard drugs and therapies used in the treatment of sickle cell disease and/or beta thalassemia provide only supportive care, and may result in long-term side effects, and inadequate control of the disease process. (clinicaltrials.gov)
  • Bone marrow transplant has been increasingly used for the long-term treatment and cure of sickle cell disease and beta thalassemia. (clinicaltrials.gov)
  • In late 2020, a team of researchers in the United States and Europe succeeded for the first time in using CRISPR to treat 10 people with sickle cell disease and transfusion-dependent beta thalassemia . (nih.gov)
  • The goal of this project is to conduct two preclinical studies required for an IND for sodium ST20 for potential treatment of beta thalassemia and sickle cell disease. (nih.gov)
  • Seven clinical trials have been conducted, including Phase II trials in patients with beta thalassemia and sickle cell anemia. (nih.gov)
  • The politics of sickle cell and thalassaemia / Elizabeth N. Anionwu and Karl Atkin. (who.int)
  • The technology addresses treatment options for diseases such as sickle-cell and thalassemia. (nih.gov)
  • A Phase 3 Trial of Luspatercept in Patients with Transfusion-Dependent β-Thalassemia. (nih.gov)
  • A loss of one alpha-globin allele is found in alpha thalassemia silent carriers. (nih.gov)
  • Over four million Indians are thalassemia carriers and more than 1, 00,000 are patients. (indiatimes.com)
  • Patients clinically known as silent carriers of alpha thalassemia. (web.app)
  • Nondeletion variants in one or two alleles cause a range of conditions, from alpha thalassemia silent carrier to HbH disease, depending on the allele involved. (nih.gov)
  • To estimate beta-thalassaemia carrier rate and to determine an accurate mass screening test, we tested 1000 randomly selected children aged 5-16 years from different geographical areas of Egypt. (who.int)
  • If one of the parents is a carrier, the child develops thalassemia minor. (indiatimes.com)
  • Thalassemia carrier status confers resistance to malaria, and therefore the geographic distribution of these 2 disorders overlaps. (web.app)
  • Thalassemia is one of the world's most common single-gene disorders. (medscape.com)
  • THALASSEMIA (COOLEY'S ANEMIA) CLINICAL RESEARCH NETWORK Release Date: March 11, 1999 (see NOT-HL-03-017 ) RFA: HL-99-016 P.T. National Heart, Lung, and Blood Institute Letter of Intent Receipt Date: June 1, 1999 Application Receipt Date: September 16, 1999 PURPOSE The National Heart, Lung, and Blood Institute (NHLBI) invites applications to participate in the establishment of a Thalassemia Clinical Research Network (network) of interactive clinical research groups. (nih.gov)
  • People with thalassemia make less haemoglobin and fewer circulating red blood cells than normal ,result in mild or severe anemia. (web.app)
  • Anemia in adult patients with beta thalassemia who require regular red blood cell (RBC) transfusions ( 1.1 ). (nih.gov)
  • REBLOZYL is indicated for the treatment of anemia in adult patients with beta thalassemia who require regular red blood cell (RBC) transfusions. (nih.gov)
  • Below are the locations and contact information for each of the thalassemia treatment centers previously funded by CDC. (cdc.gov)
  • The objective of this Request for Applications (RFA) is to establish and maintain (1) the infrastructure required for a network of five to six clinical centers to perform multiple clinical trials for persons with thalassemia, and (2) a Data Coordinating Center for the network. (nih.gov)
  • Several centers provide hematopoietic stem cell transplants (HSCTs) for thalassemias , however, only around 250 HSCTs are done annually. (bvsalud.org)
  • Individuals with thalassemia syndrome are most often of African, Asian, Mediterranean, or Middle Eastern descent. (medscape.com)
  • Hb Bart syndrome, the most severe form of alpha thalassemia, results from the loss or alteration of all four alpha-globin alleles. (nih.gov)
  • These mildly affected people are said to have thalassemia minor. (medlineplus.gov)
  • She has got the required tests done and has found that the unborn child is thalassaemia minor and will not require to undergo blood transfusions. (ndtv.com)
  • We reviewed the medical and economic burden of thalassaemia major with emphasis on prenatal diagnosis for disease prevention as the most economic health care policy approach. (who.int)
  • A simple, rapid and reliable method for diagnosis of thalassemia is described. (nih.gov)
  • The aim in this study was to address this issue, by utilizing electronically measured mean corpuscular volume (MCV), coupled with a battery of confirmatory haemoglobin (Hb) and iron studies [6], to screen and confirm the diagnosis of thalassaemia in an obstetric population attending a major maternity care clinic in central Baghdad. (who.int)
  • Written by doctor hematological diagnosis Thalassemia in medical report, which are result Allt från reklam på sociala medier till stortavlor och från PowerPoint-presentationer till spelfilmer. (web.app)
  • There is a need for higly accurate non-invasive methods for assessing organ iron content in thalassaemia patients. (who.int)
  • The International Thalassaemia Day, celebrated annually on the 8th of May, is a commemoration day in honour of all patients with thalassaemia and their parents who have never lost hope for life, despite the burden of their disease, and to all scientists who, with tireless dedication and enduring efforts, are striving to ensure an improved quality of life to people with thalassaemia across the world. (thalassaemia.org.cy)
  • Universal and improved access to quality, safe and sufficient healthcare services is also one of the most essential challenges for patients affected by thalassaemia. (thalassaemia.org.cy)
  • Expanding the range of the healthcare coverage available to individuals and populations with the disease, as well as the numbers of people who can benefit from such coverage, and ameliorating the affordability and provided quality of healthcare services for thalassaemia, represent some challenging tasks that need to be effectively tackled with and for patients, no matter where they are in the world. (thalassaemia.org.cy)
  • We are thus asking you to tell us about the progress that you think your country has made in terms of accessibility to thalassaemia healthcare services and the challenges and patient needs that you think are still present and need to be addressed in order for patients to have a long, good-quality life. (thalassaemia.org.cy)
  • Let us use this day to make a massive call for the provision of equitable, affordable, easily accessible and quality universal health coverage for all patients with thalassaemia! (thalassaemia.org.cy)
  • Participants should be thalassaemia patients, thalassaemia treating physicians or parents or individuals with a special interest in and/or involvement with thalassaemia. (thalassaemia.org.cy)
  • Thalassaemia patients should pursue universal immunisation to prevent exposure from infections. (indiatimes.com)
  • Thrombosis/Thromboembolism: Increased risk in patients with beta thalassemia. (nih.gov)
  • Extramedullary Hematopoietic (EMH) Masses: Increased risk in patients with beta thalassemia. (nih.gov)
  • Message: Liver abscess in patients with thalassemia rarely can be tubercular. (who.int)
  • this leads to the clinical disease known as alpha thalassemia. (medscape.com)
  • On World Thalassaemia Day, Dr Rajni Khajuria, Lab Director at Igenomix and former researcher at AIIMS, Delhi, shares why it is important to spread awareness about the disease, and take necessary steps. (indiatimes.com)
  • Hussein Al Blooshi, 17, suffered from thalassaemia, a debilitating genetic disease where the body makes abnormal or fewer red blood cells. (thenationalnews.com)
  • With International Thalassaemia Day being marked on May 8, Hussein's message for others with the disease is: "Never give up hope. (thenationalnews.com)
  • Based on the data obtained using the modified Bio-Rad Vnbs software, we adopted a cut-off value of 22.5% to discriminate between possible severe a-thalassaemia or HbH disease and other a-thalassaemia phenotypes. (eur.nl)
  • secondary to other endocrine There are two primary types of Thalassemia disease: Alpha Thalassemia disease and Beta Thalassemia disease. (web.app)
  • Of the two types, thalassemia major is more severe. (medlineplus.gov)
  • Puberty is delayed in some adolescents with thalassemia major. (medlineplus.gov)
  • He is thalassaemia major and now my sister is expecting her second child and is running the fifth month of pregnancy. (ndtv.com)
  • Due to remarkable success in the reduction of childhood mortality by controlling infectious diseases in developing countries, thalassemias are likely to be a major public health concern in the coming decades in South Asia. (biomedcentral.com)
  • Even so, people who have thalassemia should work with their provider to follow their treatment plan . (nih.gov)
  • This network will allow for the efficient evaluation of novel treatment methods and management strategies of potential benefit for children and adults with thalassemia. (nih.gov)
  • In this comprehensive review, the aim is to to depict the epidemiological aspects of thalassemias, mutation profile and current treatment and management practices in the country by sharing the experience of dealing with 1178 cases over 2009-2014 time periods in a specialized thalassemia treatment centre. (biomedcentral.com)
  • Children who have thalassemia need regular checkups to make sure they're growing properly. (nih.gov)
  • Children who have thalassemias should receive yearly checkups to monitor their growth and development. (hoacny.com)
  • Thalassemia is more prevalent in regions in which malaria is endemic because the RBC phenotype confers some protection against malaria. (medscape.com)
  • The ß- thalassemias are prevalent with an estimated 7500-12000 new births each year. (bvsalud.org)
  • People with beta thalassemia are at an increased risk of developing abnormal blood clots. (medlineplus.gov)
  • People are now living with thalassemia for longer and have better quality of life. (nih.gov)
  • and other associated health problems in people with beta thalassemia. (medlineplus.gov)
  • Survival and quality of life have improved for people who have thalassemia. (nih.gov)
  • It is important for people who have thalassemia to keep up with their health. (nih.gov)
  • While thalassaemia affects millions of individuals across the world, not many people are aware about the condition. (indiatimes.com)
  • Survival and quality of life have improved for people who have moderate or severe thalassemias. (hoacny.com)
  • The videos, photographs and stories will be evaluated by an international review team that will be assigned ad hoc by the Thalassaemia International Federation based on participation. (thalassaemia.org.cy)
  • Thalassaemia International Federation. (who.int)
  • This RFA, Thalassemia Clinical Research Network, is related to the priority areas of chronic disabling conditions and clinical prevention services. (nih.gov)
  • Hematologic and globin chain synthesis data indicated that in one family the affected brother and sister had the β + - δ ° β °-thalassemia condition while in the other family the propositus was homozygous for a β °-thalassemia determinant. (karger.com)