A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.
Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.
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.
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.
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.
The condition of being heterozygous for hemoglobin S.
Medical tests taken by couples planning to be married in order to determine presence of genetic and contagious diseases.
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 adult hemoglobin component normally present in hemolysates from human erythrocytes in concentrations of about 3%. The hemoglobin is composed of two alpha chains and two delta chains. The percentage of HbA2 varies in some hematologic disorders, but is about double in beta-thalassemia.
The major component of hemoglobin in the fetus. This HEMOGLOBIN has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by LEUKEMIA and several types of ANEMIA.
A disorder characterized by reduced synthesis of the 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 composed of four beta chains. It is caused by the reduced synthesis of the alpha chain. This abnormality results in ALPHA-THALASSEMIA.
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.
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 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.
Members of the alpha-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 16. They include zeta-globin and alpha-globin. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. Adult HEMOGLOBIN is comprised of 2 alpha-globin chains and 2 beta-globin chains.
A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.
Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.
ERYTHROCYTE size and HEMOGLOBIN content or concentration, usually derived from ERYTHROCYTE COUNT; BLOOD hemoglobin concentration; and HEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC).
A prolonged painful erection that may lasts hours and is not associated with sexual activity. It is seen in patients with SICKLE CELL ANEMIA, advanced malignancy, spinal trauma; and certain drug treatments.
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.
The co-occurrence of pregnancy and a blood disease (HEMATOLOGIC DISEASES) which involves BLOOD CELLS or COAGULATION FACTORS. The hematologic disease may precede or follow FERTILIZATION and it may or may not have a deleterious effect on the pregnant woman or FETUS.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
Community health education events focused on prevention of disease and promotion of health through audiovisual exhibits.
An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.
The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.
Identification of genetic carriers for a given trait.
Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.
Blood of the fetus. Exchange of nutrients and waste between the fetal and maternal blood occurs via the PLACENTA. The cord blood is blood contained in the umbilical vessels (UMBILICAL CORD) at the time of delivery.
Liquid chromatographic techniques which feature high inlet pressures, high sensitivity, and high speed.
The introduction of whole blood or blood component directly into the blood stream. (Dorland, 27th ed)
A highly-sensitive (in the picomolar range, which is 10,000-fold more sensitive than conventional electrophoresis) and efficient technique that allows separation of PROTEINS; NUCLEIC ACIDS; and CARBOHYDRATES. (Segen, Dictionary of Modern Medicine, 1992)
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.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)

Haemoglobin LeporeBoston in a Turkish family. (1/286)

Haemoglobin Lepore was demonstrated in four members of a Turkish family. It was found in the heterozygote state and was associated with erythrocyte morphology similar to that observed in the beta thalassaemia trait. The average concentration of haemoglobin Lepore was 8.1% of the total haemoglobin. Structural analysis showed that the Lepore haemoglobin was the LeporeBoston type. This is the first reported instance of the occurrence of haemoglobin Lepore in Turkey.  (+info)

Costing model for neonatal screening and diagnosis of haemoglobinopathies. (2/286)

AIM: To compare the costs and cost effectiveness of universal and targeted screening for the haemoglobinopathies; to compare the cost of two laboratory methods; and to estimate the cost effectiveness of programmes at different levels of prevalence and mix of haemoglobinopathy traits. METHODS: A retrospective review of laboratory and follow up records to establish workload and costs, and estimation of costs in a range of circumstances was made in a haematology department and sickle cell and thalassaemia centre, providing antenatal and neonatal screening programmes in Inner London. The costs for 47,948 babies, screened during 1994, of whom 25 had clinically significant haemoglobinopathies and 704 had haemoglobinopathy traits, were retrospectively assessed. RESULTS: The average cost per baby tested (isoelectric focusing and high power liquid chromatography) was 3.51 Pounds /3.83 Pounds respectively; the cost per case of sickle cell disease identified (IEF/HPLC) was 6738 Pounds /7355 Pounds; the cost per trait identified (IEF/HPLC) was 234 Pounds /255 Pounds; the cost per extra case of SCD and trait identified by universal programme varied. CONCLUSIONS: IEF and HPLC are very similar in terms of average cost per test. At 16 traits/1000 and 0.5 SCD/1000 there was no significant identification cost difference between universal and targeted programmes. Below this prevalence, a targeted programme is cheaper but likely to miss cases of SCD. If targeted programmes were 90-99% effective, universal programmes would cease to be good value except at very high prevalence. Greater use of prenatal diagnosis, resulting in termination, and therefore fewer affected births, reduces the cost effectiveness of universal screening. Screening services should aim to cover a screened population which will generate a workload over 25,000 births a year, and preferably over 40,000.  (+info)

Evaluation of cation-exchange HPLC compared with isoelectric focusing for neonatal hemoglobinopathy screening. (3/286)

BACKGROUND: Central Middlesex Hospital, in northwest London, has screened neonates for hemoglobinopathies, using the established manual technique of isoelectric focusing (IEF) since 1989. Recently, this laboratory has faced a large increase in the number of samples tested per year. This study compared the detection of hemoglobin abnormalities between the existing manual IEF method and that of automated cation-exchange HPLC to determine the reliability of HPLC and whether an automated system would save time in the laboratory. METHODS: Over a 15-month period, 25 750 blood samples, collected by heel prick onto filter paper, were tested using HPLC, and the results were compared with those obtained with IEF. RESULTS: HPLC and IEF each identified 568 patients with FAS, 151 with FAC, 49 with FAD-Punjab, 23 with FS, 3 with FC, 6 with FSC, 5 with FE, and 1 with FD. IEF detected 62 patients with FAE, whereas HPLC detected 63. This additional FAE was observed on repeat IEF. One additional heterozygote detected by HPLC was initially not observed by IEF, but was detected on repeat IEF. HPLC detected all but six cases of Hb Barts observed by IEF. One double heterozygote and four heterozygotes were detected by IEF, but not by HPLC. The detection of hemoglobin variants expressed at low concentrations was comparable for the two methods, and carryover was not observed in routine analysis on HPLC. CONCLUSIONS: HPLC is a sensitive, efficient, and time-saving alternative to IEF for the neonatal screening of common hemoglobinopathies.  (+info)

Multicenter evaluation of Tosoh glycohemoglobin analyzer. (4/286)

BACKGROUND: We describe an Anglo-French evaluation of a new analyzer. METHODS: The Tosoh HLC-723 GHb V, A1c2.2 glycohemoglobin analyzer is an HPLC instrument with primary blood tube sampling, bar-code reading, cap piercing, and the ability to chromatographically separate labile hemoglobin A1c (HbA1c). We evaluated two analytical protocols, 2.2 and 3.0 min, and compared results for blood samples collected from diabetic and nondiabetic subjects with those obtained with Bio-Rad Diamat and Variant analyzers. RESULTS: Within- and between batch-imprecision (CVs) was <2% with linearity to at least 15.9% HbA1c. Although some hemoglobinopathies were detected in the 2. 2-min chromatography, clearer evidence of abnormality was visible in the 3.0-min version. Comparison with established methods showed good correlation (r = 0.993; n = 316 with Diamat; and r = 0.995; n = 133 with Variant) but highlighted calibration differences. CONCLUSIONS: The problems of manual blood sample preparation, labile HbA1c, and carbamylated hemoglobin interference associated with the older instruments have been eliminated in the new Tosoh analyzer. The 3. 0-min protocol is preferred for routine use.  (+info)

An analysis of relative costs and potential benefits of different policies for antenatal screening for beta thalassaemia trait and variant haemoglobins. (5/286)

AIMS: To investigate the costs and potential benefits of different policies for antenatal screening for haemoglobinopathies in two multiethnic London communities. METHODS: 1000 consecutive antenatal patient samples referred to each of two London teaching hospital laboratories for haemoglobinopathy testing were investigated using the standard procedures of the laboratory in question. When the standard procedures did not include high performance liquid chromatography (HPLC), this technique was added, in order to assess its diagnostic value and cost-effectiveness. A comparison was made between the costs and potential benefits of universal testing for variant haemoglobins and beta thalassaemia trait using HPLC and the costs and potential benefits of universal testing for variant haemoglobins and selective testing for beta thalassaemia trait using the mean cell haemoglobin (MCH) as a screening test and less automated techniques than HPLC for definitive diagnosis. RESULTS: The costs of the two policies were found to be comparable, as the higher reagent/instrument costs of HPLC were offset by the lower labour costs. Universal testing of 2000 consecutive samples did not disclose any extra cases of beta thalassaemia trait which would not have been detected by universal screening and selective testing. However, six patients were found to have a haemoglobin A2 variant which can interfere with the diagnosis of beta thalassaemia trait. CONCLUSIONS: The introduction of universal testing by HPLC into British laboratories could be cost neutral and has potential benefits. If a higher cost is accepted then the greater degree of automation could be used to release skilled staff for other tasks within the laboratory.  (+info)

From genotype to phenotype: genetics and medical practice in the new millennium. (6/286)

The completion of the human genome project will provide a vast amount of information about human genetic diversity. One of the major challenges for the medical sciences will be to relate genotype to phenotype. Over recent years considerable progress has been made in relating the molecular pathology of monogenic diseases to the associated clinical phenotypes. Studies of the inherited disorders of haemoglobin, notably the thalassaemias, have shown how even in these, the simplest of monogenic diseases, there is remarkable complexity with respect to their phenotypic expression. Although studies of other monogenic diseases are less far advanced, it is clear that the same level of complexity will exist. This information provides some indication of the difficulties that will be met when trying to define the genes that are involved in common multigenic disorders and, in particular, in trying to relate disease phenotypes to the complex interactions between many genes and multiple environmental factors.  (+info)

Iron deficiency is a more important cause of anemia than hemoglobinopathies in Kuwaiti adolescent girls. (7/286)

Anemia is the most prevalent nutritional problem worldwide, due mainly to iron deficiency. Studies of anemia are less common in adolescents than in women and children. We examined anemia prevalence in adolescent Kuwaiti schoolgirls, and its association with hemoglobinopathies as well as the most common environmental cause, Fe deficiency. A cross-sectional sample of 1051 healthy adolescent schoolgirls was studied. Sample size was based on WHO criteria. Anemia, Fe deficiency and hemoglobin (Hb) variations were studied by Hb concentration, erythrocyte protoporphyrin (EP) and an HPLC quantitation, respectively. Of the subjects sampled, 30% were anemic. Mildly elevated EP values were found in 68%. Girls with high EP levels were more likely (P < 0.001) to be anemic than girls with normal EP. Up to 25% of the girls may have had Fe deficiency anemia. Hemoglobinopathies were neither prevalent nor significantly associated with anemia. These data indicate that environmental factors play a significant role in anemia among healthy, well-to-do Kuwaiti adolescent girls.  (+info)

Evaluation of HbA1c determination methods in patients with hemoglobinopathies. (8/286)

OBJECTIVE: To evaluate commercially available determination methods for HbA1c in patients with hemoglobin variants. RESEARCH DESIGN AND METHODS: HbA1c values were determined with various commercially available methods, including ion-exchange high-performance liquid chromatography (HPLC), boronate affinity assay, and immunoagglutination in patients with the hemoglobin mutations Hb Graz, Hb Sherwood Forest, Hb O Padova, Hb D, and Hb S. RESULTS: The effect of hemoglobinopathies on glycohemoglobin measurements was highly method dependent. The HPLC methods for HbA1c determination lacked the resolution necessary to differentiate hemoglobin variants. They demonstrated additional peaks in the chromatograms and HbA1c results either too low or too high compared with the nondiabetic reference range. With all immunoassays, Hb Graz demonstrated falsely low values. The other hemoglobinopathies in our study caused falsely low and/or high HbA1c results in immunoagglutination methods. The boronate affinity method showed values in an acceptable range for all hemoglobin variants. CONCLUSIONS: Because of the local occurrence of Hb variants and the ethnic origin of a given population, every individual laboratory must establish and validate its own assay method. In managing diabetic patients, knowledge of hemoglobinopathies influencing HbA1c determination methods is essential because hemoglobin variants could cause mismanagement of diabetes resulting from false HbA1c determinations.  (+info)

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

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

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

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

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

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

Hemoglobin C is a type of hemoglobin variant, which is the oxygen-carrying protein in red blood cells. Hemoglobin C is caused by a specific genetic mutation that results in the substitution of lysine for glutamic acid at position 6 on the beta globin chain of the hemoglobin molecule.

This variant is often associated with a benign condition known as hemoglobin C trait, where an individual inherits one copy of the mutated gene from one parent and one normal gene from the other parent. People with this trait usually have no symptoms or only mild anemia, if any. However, if an individual inherits two copies of the Hemoglobin C gene (one from each parent), they will have a more severe form of hemoglobin disorder called Hemoglobin CC disease, which can cause mild to moderate hemolytic anemia and other complications.

It's important to note that Hemoglobin C is most commonly found in people of West African descent, but it can also occur in other populations with African ancestry.

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

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

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

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

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

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

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

There are two main types of beta-thalassemia:

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

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

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

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

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

A premarital examination is a medical evaluation typically consisting of screening tests and counseling, performed for individuals who are planning to get married. The purpose of this examination is to identify any potential health issues that may affect the couple's future family plans or overall well-being. These evaluations often include:

1. Medical History Review: Detailed review of past medical history, surgical history, allergies, current medications, and immunization status.
2. Physical Examination: Complete physical examination to identify any existing health conditions.
3. Infectious Disease Screening: Tests for sexually transmitted infections (STIs) such as HIV, syphilis, hepatitis B, and sometimes gonorrhea and chlamydia.
4. Genetic Disorder Screening: Depending on family history or ethnic background, screening for genetic disorders may be recommended.
5. Blood Type Testing: Determination of blood types (A, B, AB, O) and Rh factor (positive or negative).
6. Counseling: Discussion about reproductive health, family planning, birth control methods, and prevention of sexually transmitted infections.
7. Vaccination Status Check: Ensuring up-to-date vaccinations for both partners.
8. Other Tests: Depending on specific circumstances, other tests like tuberculosis screening or cancer screenings might be advised.

It's important to note that laws regarding premarital examinations vary by country and state. Some places require certain tests by law while others do not.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Hemoglobin SC disease, also known as sickle cell-C disease or SC disorder, is a genetic blood disorder that is a variant of sickle cell anemia. It is caused by the presence of both hemoglobin S (HbS) and hemoglobin C (HbC) in the red blood cells.

Hemoglobin is the protein in red blood cells that carries oxygen throughout the body. In Hemoglobin SC disease, the abnormal HbS and HbC proteins can cause the red blood cells to become rigid, sticky, and C-shaped (sickled), which can lead to blockages in small blood vessels.

Symptoms of Hemoglibin SC disease may include anemia, fatigue, jaundice, episodes of pain (known as sickle cell crises), and an increased risk of infection. The severity of the symptoms can vary widely from person to person. Treatment typically focuses on managing symptoms and preventing complications, and may include medications, blood transfusions, and sometimes a bone marrow transplant.

Hemoglobin C disease is a genetic disorder that affects the structure and function of hemoglobin, a protein in red blood cells responsible for carrying oxygen throughout the body. The disease is caused by a mutation in the gene that produces the beta-globin chain of hemoglobin, resulting in the production of an abnormal form of hemoglobin called Hemoglobin C (HbC).

People with Hemoglobin C disease inherit one copy of the HbC gene from each parent. This means they have two copies of the mutated gene and produce mostly Hemoglobin C, instead of the normal Hemoglobin A. The presence of Hemoglobin C can cause the red blood cells to become rigid and fragile, leading to a condition called hemolytic anemia.

Symptoms of Hemoglobin C disease may include fatigue, weakness, shortness of breath, pale skin, jaundice, and dark urine. The severity of the symptoms can vary widely from person to person, with some individuals experiencing mild symptoms and others having more severe complications.

Hemoglobin C disease is a chronic condition that requires ongoing medical management, including regular monitoring of hemoglobin levels, iron status, and other blood parameters. Treatment may include blood transfusions, folic acid supplementation, and medications to manage symptoms such as anemia and pain.

It's important to note that Hemoglobin C disease is not the same as sickle cell disease, which is another genetic disorder that affects hemoglobin structure and function. While both conditions can cause hemolytic anemia, they are caused by different mutations in the beta-globin gene and have distinct clinical features and management approaches.

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

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

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

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

The three main erythrocyte indices are:

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

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

Priapism is defined as a persistent and painful erection of the penis that lasts for more than four hours and occurs without sexual stimulation. It's a serious medical condition that requires immediate attention, as it can lead to permanent damage to the penis if left untreated.

Priapism can be classified into two types: ischemic (or low-flow) priapism and nonischemic (or high-flow) priapism. Ischemic priapism is the more common form, and it occurs when blood flow to the penis is obstructed, leading to the accumulation of deoxygenated blood in the corpora cavernosa. Nonischemic priapism, on the other hand, is usually caused by unregulated arterial blood flow into the corpora cavernosa, often as a result of trauma or surgery.

The causes of priapism can vary, but some common underlying conditions include sickle cell disease, leukemia, spinal cord injuries, and certain medications such as antidepressants and drugs used to treat erectile dysfunction. Treatment for priapism depends on the type and cause of the condition, and may involve medication, aspiration of blood from the penis, or surgical intervention.

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

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

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

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

Hematologic pregnancy complications refer to disorders related to the blood and blood-forming tissues that occur during pregnancy. These complications can have serious consequences for both the mother and the fetus if not properly managed. Some common hematologic pregnancy complications include:

1. Anemia: A condition characterized by a decrease in the number of red blood cells or hemoglobin in the blood, which can lead to fatigue, weakness, and shortness of breath. Iron-deficiency anemia is the most common type of anemia during pregnancy.
2. Thrombocytopenia: A condition characterized by a decrease in the number of platelets (cells that help blood clot) in the blood. Mild thrombocytopenia is relatively common during pregnancy, but severe thrombocytopenia can increase the risk of bleeding during delivery.
3. Gestational thrombotic thrombocytopenic purpura (GTTP): A rare but serious disorder that can cause blood clots to form in small blood vessels throughout the body, leading to a decrease in the number of platelets and red blood cells. GTTP can cause serious complications such as stroke, kidney failure, and even death if not promptly diagnosed and treated.
4. Disseminated intravascular coagulation (DIC): A condition characterized by abnormal clotting and bleeding throughout the body. DIC can be triggered by various conditions such as severe infections, pregnancy complications, or cancer.
5. Hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome: A serious complication of pregnancy that can cause damage to the liver and lead to bleeding. HELLP syndrome is often associated with preeclampsia, a condition characterized by high blood pressure and damage to organs such as the liver and kidneys.

It's important for pregnant women to receive regular prenatal care to monitor for these and other potential complications, and to seek prompt medical attention if any concerning symptoms arise.

Prenatal diagnosis is the medical testing of fetuses, embryos, or pregnant women to detect the presence or absence of certain genetic disorders or birth defects. These tests can be performed through various methods such as chorionic villus sampling (CVS), amniocentesis, or ultrasound. The goal of prenatal diagnosis is to provide early information about the health of the fetus so that parents and healthcare providers can make informed decisions about pregnancy management and newborn care. It allows for early intervention, treatment, or planning for the child's needs after birth.

I'm sorry for any confusion, but "Health Fairs" is not a term that has a specific medical definition. However, in general terms, health fairs are community events organized to promote health awareness and education. They are often hosted by hospitals, clinics, or other healthcare organizations and feature various screenings, educational booths, and activities aimed at promoting overall wellness. Healthcare professionals may also be present to provide information, answer questions, and offer advice on a range of health-related topics.

Genetic counseling is a process of communication and education between a healthcare professional and an individual or family, aimed at understanding, adapting to, and managing the medical, psychological, and familial implications of genetic contributions to disease. This includes providing information about the risk of inherited conditions, explaining the implications of test results, discussing reproductive options, and offering support and resources for coping with a genetic condition. Genetic counselors are trained healthcare professionals who specialize in helping people understand genetic information and its impact on their health and lives.

Neonatal screening is a medical procedure in which specific tests are performed on newborn babies within the first few days of life to detect certain congenital or inherited disorders that are not otherwise clinically apparent at birth. These conditions, if left untreated, can lead to serious health problems, developmental delays, or even death.

The primary goal of neonatal screening is to identify affected infants early so that appropriate treatment and management can be initiated as soon as possible, thereby improving their overall prognosis and quality of life. Commonly screened conditions include phenylketonuria (PKU), congenital hypothyroidism, galactosemia, maple syrup urine disease, sickle cell disease, cystic fibrosis, and hearing loss, among others.

Neonatal screening typically involves collecting a small blood sample from the infant's heel (heel stick) or through a dried blood spot card, which is then analyzed using various biochemical, enzymatic, or genetic tests. In some cases, additional tests such as hearing screenings and pulse oximetry for critical congenital heart disease may also be performed.

It's important to note that neonatal screening is not a diagnostic tool but rather an initial step in identifying infants who may be at risk of certain conditions. Positive screening results should always be confirmed with additional diagnostic tests before any treatment decisions are made.

Heterozygote detection is a method used in genetics to identify individuals who carry one normal and one mutated copy of a gene. These individuals are known as heterozygotes and they do not typically show symptoms of the genetic disorder associated with the mutation, but they can pass the mutated gene on to their offspring, who may then be affected.

Heterozygote detection is often used in genetic counseling and screening programs for recessive disorders such as cystic fibrosis or sickle cell anemia. By identifying heterozygotes, individuals can be informed of their carrier status and the potential risks to their offspring. This information can help them make informed decisions about family planning and reproductive options.

Various methods can be used for heterozygote detection, including polymerase chain reaction (PCR) based tests, DNA sequencing, and genetic linkage analysis. The choice of method depends on the specific gene or mutation being tested, as well as the availability and cost of the testing technology.

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

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

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

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

Fetal blood refers to the blood circulating in a fetus during pregnancy. It is essential for the growth and development of the fetus, as it carries oxygen and nutrients from the placenta to the developing tissues and organs. Fetal blood also removes waste products, such as carbon dioxide, from the fetal tissues and transports them to the placenta for elimination.

Fetal blood has several unique characteristics that distinguish it from adult blood. For example, fetal hemoglobin (HbF) is the primary type of hemoglobin found in fetal blood, whereas adults primarily have adult hemoglobin (HbA). Fetal hemoglobin has a higher affinity for oxygen than adult hemoglobin, which allows it to more efficiently extract oxygen from the maternal blood in the placenta.

Additionally, fetal blood contains a higher proportion of reticulocytes (immature red blood cells) and nucleated red blood cells compared to adult blood. These differences reflect the high turnover rate of red blood cells in the developing fetus and the need for rapid growth and development.

Examination of fetal blood can provide important information about the health and well-being of the fetus during pregnancy. For example, fetal blood sampling (also known as cordocentesis or percutaneous umbilical blood sampling) can be used to diagnose genetic disorders, infections, and other conditions that may affect fetal development. However, this procedure carries risks, including preterm labor, infection, and fetal loss, and is typically only performed when there is a significant risk of fetal compromise or when other diagnostic tests have been inconclusive.

High-performance liquid chromatography (HPLC) is a type of chromatography that separates and analyzes compounds based on their interactions with a stationary phase and a mobile phase under high pressure. The mobile phase, which can be a gas or liquid, carries the sample mixture through a column containing the stationary phase.

In HPLC, the mobile phase is a liquid, and it is pumped through the column at high pressures (up to several hundred atmospheres) to achieve faster separation times and better resolution than other types of liquid chromatography. The stationary phase can be a solid or a liquid supported on a solid, and it interacts differently with each component in the sample mixture, causing them to separate as they travel through the column.

HPLC is widely used in analytical chemistry, pharmaceuticals, biotechnology, and other fields to separate, identify, and quantify compounds present in complex mixtures. It can be used to analyze a wide range of substances, including drugs, hormones, vitamins, pigments, flavors, and pollutants. HPLC is also used in the preparation of pure samples for further study or use.

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

Capillary electrophoresis (CE) is a laboratory technique used to separate and analyze charged particles such as proteins, nucleic acids, and other molecules based on their size and charge. In CE, the sample is introduced into a narrow capillary tube filled with a buffer solution, and an electric field is applied. The charged particles in the sample migrate through the capillary towards the electrode with the opposite charge, and the different particles become separated as they migrate based on their size and charge.

The separation process in CE is monitored by detecting the changes in the optical properties of the particles as they pass through a detector, typically located at the end of the capillary. The resulting data can be used to identify and quantify the individual components in the sample. Capillary electrophoresis has many applications in research and clinical settings, including the analysis of DNA fragments, protein identification and characterization, and the detection of genetic variations.

Erythroid precursor cells, also known as erythroblasts or normoblasts, are early stage cells in the process of producing mature red blood cells (erythrocytes) in the bone marrow. These cells are derived from hematopoietic stem cells and undergo a series of maturation stages, including proerythroblast, basophilic erythroblast, polychromatophilic erythroblast, and orthochromatic erythroblast, before becoming reticulocytes and then mature red blood cells. During this maturation process, the cells lose their nuclei and become enucleated, taking on the biconcave shape and flexible membrane that allows them to move through small blood vessels and deliver oxygen to tissues throughout the body.

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

... is the medical term for a group of inherited blood disorders and diseases that primarily affect red blood ... Some hemoglobin variants do not cause pathology or anemia, and thus are often not classed as hemoglobinopathies. Normal human ...
"Hemoglobinopathies". sickle.bwh.harvard.edu. Retrieved 2020-11-21. Weber RE, Vinogradov SN (April 2001). "Nonvertebrate ...
Transfusion in Hemoglobinopathies". www.isbtweb.org. Retrieved 2019-01-09. Estcourt, Lise J.; Kimber, Catherine; Hopewell, ...
"Hemoglobinopathies and Thalassemias". Archived from the original on 2007-12-15. Retrieved 2011-03-03. "Sickle Cell Trait and ... "hemoglobinopathy" at Dorland's Medical Dictionary Weatherall DJ, Clegg JB. Inherited haemoglobin disorders: an increasing ... Other Hemoglobinopathies and Diabetes: Important Information for Physicians". National Diabetes Information Clearinghouse. ...
... (March 1991). "Prenatal screening for hemoglobinopathies". American Journal of Human Genetics. 48 (3): 433-438 ...
"Hemoglobinopathies in Lebanon and Arab Countries." Proc. IXth Congr. European Soc. Haemat., II (1963):496-500. "Iron Absorption ...
The best known hemoglobinopathy is sickle-cell disease, which was the first human disease whose mechanism was understood at the ... Hemoglobinopathies (genetic defects resulting in abnormal structure of the hemoglobin molecule) may cause both. In any case, ... "Hemoglobinopathies and Thalassemias". Archived from the original on 2007-12-15. Retrieved 2007-12-26. Reed, Leslie. "Adaptation ... Some mutations in the globin chain are associated with the hemoglobinopathies, such as sickle-cell disease and thalassemia. ...
Preconception counseling and testing identify couples at risk for hemoglobinopathies that might affect their offspring. This ... Sabath, DE (1 July 2017). "Molecular Diagnosis of Thalassemias and Hemoglobinopathies: An ACLPS Critical Review". American ... "Prenatal and preimplantation diagnosis of hemoglobinopathies". International Journal of Laboratory Hematology. 40 (Suppl 1): 74 ...
The prevalence of Hemoglobin H disease mirrors that of the hemoglobinopathies. As a whole, they are most prevalent in ... Kohne, Elisabeth (2011). "Hemoglobinopathies: clinical manifestations, diagnosis, and treatment". Deutsches Ärzteblatt ...
"Hemoglobinopathies and other congenital hemolytic anemia". Indian J Med Sci. 58 (11): 490-3. PMID 15567909. (Webarchive ... Pyruvate kinase deficiency Aldolase A deficiency Hemoglobinopathies/genetic conditions of hemoglobin Sickle cell anemia ...
Lidonnici, MR; Ferrari, G (May 2018). "Gene therapy and gene editing strategies for hemoglobinopathies". Blood Cells, Molecules ... "Gene Therapy of the β-Hemoglobinopathies by Lentiviral Transfer of the β - Gene". Human Gene Therapy. 27 (2): 148-165. doi: ... Reactivating Fetal Globin for β-Hemoglobinopathies". Trends in Genetics. 34 (12): 927-940. doi:10.1016/j.tig.2018.09.004. PMID ...
Worldwide, it is estimated that 7% of the population may carry a hemoglobinopathy with clinical significance. The most well ... Early identification of individuals with sickle cell disease and other hemoglobinopathies allows treatment to be initiated in a ... Benson, J. M.; Therrell, B. L. (2010). "History and Current Status of Newborn Screening for Hemoglobinopathies". Seminars in ... Newborn screening for a large number of hemoglobinopathies is done by detecting abnormal patterns using isoelectric focusing, ...
"ICD-9-CM 2015 Diagnosis Code 282.7 : Other hemoglobinopathies". Archived from the original on 2 February 2022. Retrieved 5 ... Hemocytometer Cytometry Glucose meter Blood chemistry "ICD-10-CM 2022 Diagnosis Code D58.2: Other hemoglobinopathies". Archived ...
These hemoglobinopathies are often inherited as autosomal recessive traits. Alpha-thalassemia (α-thalassemia) is defined by a ... This results in globin gene disorders (hemoglobinopathies) which can be either abnormal globin chain variants (sickle cell ... "Hemoglobinopathies". Retrieved 2009-02-06. Farid, Yostina; Lecat, Paul (2019), "Biochemistry, Hemoglobin Synthesis", StatPearls ...
Hemoglobin variants Hemoglobinopathy Thalassemia What is Thalassemia? Hemoglobin H Disease and its Variants Hemoglobinopathiesm ...
Beta-thalassemia Delta-thalassemia Hemoglobinopathy Origa, Raffaella; Moi, Paolo; Galanello, Renzo; Cao, Antonio (1 January ...
"Composition and method for treatment of hemoglobinopathies - US Patent 5447720 Abstract". Archived from the original on 2011-06 ...
... where he investigated hemoglobinopathies. Subsequent work involved inherited blood disorders, which he conducted at Walter Reed ... a simple semiquantitative method for the study of the hereditary hemoglobinopathies". Blood. 9 (9): 897-910. doi:10.1182/blood. ...
His methods have been used to identify recombination hotspots in hemoglobinopathies. Chakravarti also studies sudden cardiac ...
This mutated form reduces the normal plasticity of host erythrocytes causing a hemoglobinopathy. In those who are heterozygous ... HbC can combine with other abnormal hemoglobins and cause serious hemoglobinopathies. Individuals with sickle cell-hemoglobin C ... hemoglobin C disease is one of the more benign hemoglobinopathies. Mild-to-moderate reduction in RBC lifespan may accompany ...
Alpha thalassemia Beta-thalassemia Hemoglobinopathy "Delta-beta-thalassemia". Orphanet. Orphanet. Retrieved 16 September 2016 ...
Hemoglobinopathies are one of the most common disorders among the UAE nationals. Beta-thalassemia constitutes a major public ...
His special interest were the hemoglobinopathies, with a major focus on thalassemia. He studied and described the pathological ... Hemoglobinopathies. Abu Dhabi, 2013 Peptide analysis of the inclusions of erythroid cells in B-thalassemia. Fessas P, ... study of a hemoglobinopathy resembling thallassemia in the hterozygous, homozygous and double heterozygous state. FESSAS P, ...
As the boy had severe pneumonia and blood abnormality (hemoglobinopathy) including sickled RBCs. His Hemoglobin was different ... Retinal Manifestations of a Rare Hemoglobinopathy". Case Reports in Ophthalmology. 11 (2): 189-195. doi:10.1159/000507879. PMC ...
The cause could be iron deficiency or a hemoglobinopathy. Red blood cells deliver oxygen from the lungs to the tissues and on ... or hemoglobin electrophoresis to diagnose a hemoglobinopathy such as thalassemia or sickle cell disease. The white blood cell ...
ISBN 9781606929438 Favism Hemoglobinopathies Malaria and the Red Cell (All articles with dead external links, Articles with ... It is one of the most prevalent hemoglobinopathies with 30 million people affected. Hemoglobin E is very common in parts of ...
"Red blood cell specifications for patients with hemoglobinopathies: a systematic review and guideline". Transfusion. 58 (6): ...
"Internet-based approach to population screening for common hemoglobinopathies in United Arab Emirates". NHS Nursing & Health ...
Certain hemoglobinopathies, the most common of which is sickle cell trait, do this. Overall, somewhere around 1-3% of the time ... This could be caused by a hemoglobinopathy in the mother which causes persistent elevation of fetal hemoglobin, e.g. sickle ...
April 2011). "Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution ...
Hemoglobinopathy is the medical term for a group of inherited blood disorders and diseases that primarily affect red blood ... Some hemoglobin variants do not cause pathology or anemia, and thus are often not classed as hemoglobinopathies. Normal human ...
Hemoglobinopathy is a group of disorders in which there is abnormal production or structure of the hemoglobin molecule. It is ... Hemoglobinopathy is a group of disorders in which there is abnormal production or structure of the hemoglobin molecule. It is ... Hemoglobinopathy is a group of disorders in which there is abnormal production or structure of the hemoglobin molecule. It is ... Hemoglobinopathies. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. ...
While many hemoglobinopathies exist, those resulting in proliferative retinopathy are limited to sickle cell disease. ... encoded search term (Hemoglobinopathy Retinopathy) and Hemoglobinopathy Retinopathy What to Read Next on Medscape ... Hemoglobinopathy Retinopathy. Updated: Dec 14, 2021 * Author: Brian A Phillpotts, MD; Chief Editor: Hampton Roy, Sr, MD more... ... The hemoglobinopathy results from inheriting 1 Hb S gene and 1 Hb C gene, which is common in West African populations. ...
One of the products of the APHL Hemoglobinopathy Laboratory Workgroup is this guidance document on hemoglobinopathy laboratory ... Registry and Surveillance System for Hemoglobinopathies (RuSH) Cite CITE. Title : Registry and Surveillance System for ... Title : Hemoglobinopathies : current practices for screening, confirmation and follow-up Corporate Authors(s) : Association of ... Registry and Surveillance System for Hemoglobinopathies -- RuSH : strategies from the field : Data collection Cite ...
Global Hemoglobin Analyzer Market Trends: Rising Prevalence of Hemoglobinopathies 2030. Cloud PR Wire October 31, 2023. , 0 , , ... The prevalence of hemoglobinopathies varies by geographical location, race, ethnicity, and migration patterns. Sub-Saharan ... Asia Pacific is also expected to grow significantly, driven by rising cases of hemoglobinopathies and government programs. ... coupled with a strong product pipeline for the treatment of hemoglobinopathies. ...
Musculoskeletal symptoms are common in patients with hemoglobinopathies and treatment can be challenging. Find out what ...
Hemoglobinopathy / Thalassemia. Hemoglobinopathies (thalassemias) are prevalent in Syria, and throughout Mediterranean and ...
Hemoglobinopathies. Hemoglobinopathies involve a quantitative defect in biosynthesis of one type of hemoglobin (Hb) chain or a ... Hemoglobinopathy testing using high-performance liquid chromatography (HPLC), capillary electrophoresis, and red blood cell ...
While many hemoglobinopathies exist, those resulting in proliferative retinopathy are limited to sickle cell disease. ... encoded search term (Hemoglobinopathy Retinopathy) and Hemoglobinopathy Retinopathy What to Read Next on Medscape ... Hemoglobinopathy Retinopathy Differential Diagnoses. Updated: Mar 06, 2014 * Author: Brian A Phillpotts, MD, MD; Chief Editor: ... Ophthalmologic complications in hemoglobinopathies. Hematol Oncol Clin North Am. 1991 Jun. 5(3):535-48. [QxMD MEDLINE Link]. ...
Universal Gene Correction Approaches for beta-hemoglobinopathies Using CRISPR-Cas9 and Adeno-Associated Virus Serotype 6 Donor ... Universal Gene Correction Approaches for beta-hemoglobinopathies Using CRISPR-Cas9 and Adeno-Associated Virus Serotype 6 Donor ...
Overview of Hemoglobinopathies - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - ... composed of alpha and gamma chains-see also Hemoglobinopathies in Pregnancy Hemoglobinopathies in Pregnancy Normally during ... or Hb C disease Hemoglobin C Disease Hemoglobin C disease is a hemoglobinopathy that causes symptoms of a hemolytic anemia. ( ... Some hemoglobinopathies result in anemias that are severe in patients who are homozygous but mild in those who are heterozygous ...
Antonio Cao Award for Research in Thalassemia or Hemoglobinopathies, Palermo, Italy (2013) ...
Will your company display a new product or promote a new indication/enhanced feature(s) for an existing product in your booth ...
Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Carrier Screening Programs for ... Carrier screening for CF, FXS, hemoglobinopathies and thalassemia, and SMA is effective at identifying at-risk couples, and ... Carrier screening for CF, hemoglobinopathies and thalassemia, FXS, and SMA likely results in the identification of couples with ... hemoglobinopathies and thalassemia, and spinal muscular atrophy (SMA) in people who are considering a pregnancy or who are ...
Hemoglobinopathies were neither prevalent nor significantly associated with anemia. These data indicate that environmental ... and its association with hemoglobinopathies as well as the most common environmental cause, Fe deficiency. A cross-sectional ...
Fetal Hemoglobin in Sickle Hemoglobinopathies: High HbF Genotypes and Phenotypes by Martin H. Steinberg ...
Next articleBiogen Idec, Sangamo Launch Up to $320M+ Hemoglobinopathy Collaboration. Angelo DePalma, PhD ...
Finding new ways to use bone marrow transplant, including pediatric hemoglobinopathies and inherited metabolic diseases ...
Hemoglobinopathies. Health and Nutrition indicators. *• Under‐5 and infant mortality rate. *• Anthropometric indicators for ...
Categories: Hemoglobinopathies Image Types: Photo, Illustrations, Video, Color, Black&White, PublicDomain, CopyrightRestricted ...
Hemoglobinopathies in Arab countries. In: Teebi AS, ed. Genetic disorders among Arab populations. New York, Oxford University ...
Hemoglobinopathies. Immunodeficiency diseases. Patients on immunosuppressants. Any chronic pulmonary/cardivascular disorder. ...
Characterization of hemoglobinopathies using high resolution mass spectrometry 7. Janani S Manipal Academy of Higher Education ...
... differentiate hemoglobinopathies from thalassemias, etc.) ...
NTAORHR: Anemia or hemoglobinopathy recode The anemia and hemoglobinopathy variables are combined due to small cell sizes in ... Hemoglobinopathy--A blood disorder caused by alteration in the genetically determined molecular structure of hemoglobin (for ... Anemia or hemoglobinopathy recode (also see separate note below for NTAORHR), Cardiac disease, Acute or chronic lung disease, ...
Sickle cell disease (SCD) is a hereditary hemoglobino pathy characterized by abnormal hemoglobin production, hemolytic anemia, ... Sickle cell disease (SCD) is an autosomal, recessive hemoglobinopathy characterized by hemolytic anemia, intermittent occlusion ... The majority of cases of hemoglobinopathy-associated endocrine dysfunction have been reported in persons with thalassemia ...
  • Howard J. Sickle cell disease and other hemoglobinopathies. (medlineplus.gov)
  • Although many hemoglobinopathies exist, those resulting in proliferative retinopathy are limited to sickle cell disease. (medscape.com)
  • Homozygous sickle cell disease (SS disease), sickle cell C disease (SC disease), and sickle cell-thalassemia disease (S-Thal disease) are common hemoglobinopathies that can present with mild-to-severe proliferative retinal findings. (medscape.com)
  • The markets expansion is primarily driven by the rising prevalence of hemoglobin-related disorders such as sickle cell disease (SCD) and thalassemia, coupled with a strong product pipeline for the treatment of hemoglobinopathies. (vinceheadlines.com)
  • Sickle Cell Disease Sickle cell disease (a hemoglobinopathy) causes a chronic hemolytic anemia occurring almost exclusively in people with African ancestry. (msdmanuals.com)
  • Sickle cell disease (SCD) is an autosomal, recessive hemoglobinopathy characterized by hemolytic anemia, intermittent occlusion of small vessels leading to acute and chronic tissue ischemia, and organ dysfunction. (medscape.com)
  • Genetic screening can identify couples at risk for offspring with sickle cell disease and other hemoglobinopathies and allow them to make informed decisions regarding reproduction and prenatal diagnosis (2) . (womenshealthsection.com)
  • Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment. (bvsalud.org)
  • We conducted a health technology assessment to evaluate the safety , effectiveness , and cost - effectiveness of carrier screening programs for cystic fibrosis (CF), fragile X syndrome (FXS), hemoglobinopathies and thalassemia , and spinal muscular atrophy (SMA) in people who are considering a pregnancy or who are pregnant. (bvsalud.org)
  • Carrier screening for CF, hemoglobinopathies and thalassemia , FXS, and SMA likely results in the identification of couples with an increased chance of having an affected pregnancy (GRADE Moderate). (bvsalud.org)
  • Hemoglobin C Disease Hemoglobin C disease is a hemoglobinopathy that causes symptoms of a hemolytic anemia. (msdmanuals.com)
  • Hemoglobin E Disease Homozygous hemoglobin E (Hb E) disease is a hemoglobinopathy that causes a mild hemolytic anemia, usually without splenomegaly. (msdmanuals.com)
  • Some hemoglobin variants do not cause pathology or anemia, and thus are often not classed as hemoglobinopathies. (wikipedia.org)
  • Hemoglobinopathy is a group of disorders in which there is abnormal production or structure of the hemoglobin molecule. (medlineplus.gov)
  • Hemoglobinopathies are genetic disorders affecting the structure or production of the hemoglobin molecule. (msdmanuals.com)
  • St Louis J, Valdini A. Abnormally Low Hemoglobin A1c as Harbinger of Hemoglobinopathy. (umassmed.edu)
  • 8. Rahimi Z. Genetic epidemiology, hematological and clinical features of hemoglobinopathies in Iran. (ac.ir)
  • Sickle cell hemoglobinopathy encompasses a group of inherited genetic disorders, which cause erythrocytes to become sickled and affect multiple organ systems. (medscape.com)
  • Individuals with African, Southeast Asian, and Mediterranean ancestry are at a higher risk for being carriers of hemoglobinopathies and should be offered carrier screening. (womenshealthsection.com)
  • Title : Hemoglobinopathies : current practices for screening, confirmation and follow-up Corporate Authors(s) : Association of Public Health Laboratories (U.S.);Centers for Disease Control and Prevention (U.S. (cdc.gov)
  • Hemoglobinopathy is the medical term for a group of inherited blood disorders and diseases that primarily affect red blood cells. (wikipedia.org)
  • Asia Pacific is also expected to grow significantly, driven by rising cases of hemoglobinopathies and government programs. (vinceheadlines.com)
  • Some hemoglobinopathies result in anemias that are severe in patients who are homozygous but mild in those who are heterozygous. (msdmanuals.com)
  • Some patients are compound heterozygotes for 2 different hemoglobinopathies and have anemia of varying severity. (msdmanuals.com)
  • Tests for serum alpha-1 antitrypsin deficiency, glucose-6-phosphate-dehydrogenase deficiency, cadmium -disulfide genetic predisposition, isocyanate allergic reaction, and sickle cell trait hemoglobinopathies are discussed. (cdc.gov)

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