MutationsAnemiaHBA2DeletionsGeneticFetal hemoglobinMake alpha globinElectrophoresisSymptomsFamily history of thalassemiaSeverityTraitCarrierChainsMoleculeTypes of hemoglobinSickleProduction of hemoglobinDeformitiesRBCsNormal hemoglobinMildChromosome 16pPhenotypeCarriersMutationProtein in red bloodPrevalenceConsistsAbnormal hemoglobinHydrops fetalisSubunitsDecreaseBoneSpecial hemoglobin testsInheritsDisorderWorld'sIron deficiencyVariantsMilderBetaForm of hemoglobinAmount of hemoglobinJaundiceIncompatible with lifeFewerHPLCScreeningAnaemiaProteinsOxygenFrequencyIndiaBloodSpleenPrenatalTypically
Mutations20
- Molecular analysis of DNA sequences (DNA analysis) can be used for the confirmation of a diagnosis of alpha-thalassemia, particularly for the detection of alpha-thalassemia carriers (deletions or mutations in only one or two alpha-globin genes). (wikipedia.org)
- However, beta thalassemia may still exist when the HbA2 level is normal, with such concentrations dropping into the normal range in the presence of conditions such as concomitant iron deficiency and delta-chain mutations. (medscape.com)
- Someone who inherits two alpha thalassemia mutations has alpha thalassemia trait . (childrensmn.org)
- Someone who inherits three alpha thalassemia mutations has hemoglobin H disease . (childrensmn.org)
- Someone who inherits four alpha thalassemia mutations has alpha thalassemia major or hydrops fetalis . (childrensmn.org)
- Hundreds of variants (also known as mutations) in the HBB gene have been found to cause beta thalassemia. (medlineplus.gov)
- Thalassemias are a group of inherited blood disorders that cause anemia because of mutations of the hemoglobin genes that result in ineffective red blood cell formation. (rupahealth.com)
- The type and number of inherited gene mutations dictate the type and severity of the disease. (rupahealth.com)
- Four genes are responsible for the alpha chain, and the severity of alpha-thalassemia depends on the number of gene mutations present. (rupahealth.com)
- People with two gene mutations are generally asymptomatic. (rupahealth.com)
- Alpha-thalassemia intermedia, or hemoglobin H disease, results from three gene mutations. (rupahealth.com)
- Beta-thalassemia results from one or two gene mutations that control the synthesis of the beta-hemoglobin chain, thereby slowing beta-chain production. (rupahealth.com)
- Two gene mutations can lead to either beta-thalassemia intermedia or beta-thalassemia major, depending on the resulting extent of decreased beta-chain synthesis. (rupahealth.com)
- A) with Deletional and Nondeletional a + -Thalassemia Mutations: Diverse Hematological and Clinical Features. (medscape.com)
- There are various abnormalities which can arise due to changes (mutations) in the genes that regulate the production of these proteins. (thalassaemia.org.cy)
- Mutations can cause reduced production of the proteins, either the α-globin chains or the β- chains. (thalassaemia.org.cy)
- Alpha thalassemia is caused by mutations in the genes that produce alpha globin, which is a component of the hemoglobin molecule. (kokilabenhospital.com)
- Beta thalassemia is caused by mutations in the genes that produce beta globin, which is another component of the hemoglobin molecule. (kokilabenhospital.com)
- Genetic mutations are known to affect the production of hemoglobin that lead to thalassemia. (kokilabenhospital.com)
- Genetic testing can confirm the diagnosis of thalassemia and determine the specific mutations in the HBA1, HBA2, and HBB genes. (asianhomeocare.com)
Anemia37
- Treatment for alpha-thalassemia may include blood transfusions to maintain hemoglobin at a level that reduces symptoms of anemia. (wikipedia.org)
- Splenectomy is a possible treatment option to increase total hemoglobin levels in cases of worsening anemia due to an overactive or enlarged spleen, or when transfusion therapy is not possible. (wikipedia.org)
- Study results found in thalassemia-including negative Coombs testing, low haptoglobin, elevated lactate dehydrogenase, and elevated indirect bilirubin-are also derived in nonimmune hemolytic anemia. (medscape.com)
- People who have milder forms of thalassemia might be diagnosed after a routine blood test shows they have anemia. (hoacny.com)
- Doctors might suspect thalassemia if a person has anemia and is a member of an ethnic group that's at increased risk for thalassemias. (hoacny.com)
- Doctors also test the amount of iron in the blood to find out whether the anemia is due to iron deficiency or thalassemia. (hoacny.com)
- Iron-deficiency anemia occurs if the body doesn't have enough iron to make hemoglobin. (hoacny.com)
- The anemia in thalassemia occurs because of a problem with either the alpha globin or beta globin chains of hemoglobin, not because of a lack of iron. (hoacny.com)
- The decrease in alpha globin causes anemia (not enough RBCs in the body) and can lead to other medical problems. (childrensmn.org)
- Depending on the type of alpha thalassemia, anemia can be very mild or very severe. (childrensmn.org)
- People with alpha thalassemia minor may have mild anemia, but usually don't need any medical treatment. (childrensmn.org)
- People with hemoglobin H disease have moderate or severe anemia. (childrensmn.org)
- In the past, almost all babies with alpha thalassemia major died before or shortly after birth from complications of extreme anemia. (childrensmn.org)
- People with alpha thalassemia trait have a very mild anemia. (childrensmn.org)
- The imbalance in alpha and beta globin causes anemia and leads to the other medical problems from alpha thalassemia. (childrensmn.org)
- This imbalance causes anemia and the other medical problems of alpha thalassemia. (childrensmn.org)
- The severity of hemoglobin SC disease is variable, but it can be as severe as sickle cell anemia. (medlineplus.gov)
- Screening should include hemoglobin electrophoresis, particularly in individuals with anemia, red blood cell abnormalities, and/or morbidity suggestive of disease. (cdc.gov)
- Red blood cells live shorter and don't function properly without sufficient hemoglobin, causing anemia. (rupahealth.com)
- this results in low hemoglobin levels and microcytic anemia characterized by small red blood cells (RBCs). (rupahealth.com)
- Moderate-to-severe anemia develops, along with other thalassemia-related health complications. (rupahealth.com)
- Anemia in thalassemia results from ineffective RBC formation and increased hemolysis of the RBCs in circulation. (rupahealth.com)
- Thalassemia is the world's most common form of inherited anemia, and in economically undeveloped countries still accounts for tens of thousands of premature deaths every year. (haematologica.org)
- 1 The accumulation of free excess α-globin chains in red blood cells and their precursors, as a result of the decreased production of β-globin, is believed to be the main pathophysiological mechanism leading to hemolytic anemia and ineffective erythropoiesis in β-thalassemia. (haematologica.org)
- Pregnant women with hemoglobin H (HbH) disease require special care because women with severe anemia may have serious health problems during their pregnancy, and these problems may adversely affect the health of their fetuses. (medscape.com)
- Individuals with alpha thalassemia may have mild to severe anemia, while those with beta thalassemia typically have more severe symptoms. (kokilabenhospital.com)
- A person has two mutated genes and may have mild anemia, but typically does not require treatment. (asianhomeocare.com)
- A person has three mutated genes and may have moderate to severe anemia, enlarged spleen, and other symptoms. (asianhomeocare.com)
- People with beta thalassemia minor have mild anemia that often goes unnoticed, and they usually do not require regular blood transfusions. (asianhomeocare.com)
- People with beta-thalassemia intermedia may have more severe anemia, requiring occasional blood transfusions, and may experience other symptoms such as bone deformities and enlarged spleen. (asianhomeocare.com)
- Thalassemia can cause anemia. (asianhomeocare.com)
- Some authorities also consider a relative anemia to exist when a hemoglobin or hematocrit above that cutoff point is insufficient to meet tissue oxygen demand. (msdmanuals.com)
- Evaluation of Anemia Anemia is a decrease in the number of red blood cells (RBCs) as measured by the red cell count, the hematocrit, or the red cell hemoglobin content. (msdmanuals.com)
- Thalassemia is a genetic disorder affecting hemoglobin production that could lead to anemia. (mastelf.com)
- [1] Often there is mild to severe anemia (low red blood cells or hemoglobin). (drpareshmajumder.com)
- A hemoglobin or hematocrit level lower below the age-adjusted reference range for healthy children is referred to as pediatric anemia. (icloudhospital.com)
- Anemia is a physiological condition in which low hematocrit or hemoglobin levels result in decreased oxygen-carrying capacity, which does not satisfy the body's metabolic demands efficiently. (icloudhospital.com)
HBA23
- Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 and HBA2. (wikipedia.org)
- [ 1 ] In beta thalassemia intermedia, hemoglobin analysis reveals elevated levels of HbF and HbA2. (medscape.com)
- Although several approaches failed to find a defect in the alpha-globin genes, 3 patients tested had markedly reduced total mRNA levels of both HBA1 and HBA2. (findzebra.com)
Deletions5
- If hemoglobin Barts is detected on a newborn screen, the patient is usually referred for further evaluation since detection of hemoglobin Barts can indicate either one alpha globin gene deletion, making the baby a silent alpha thalassemia carrier, two alpha globin gene deletions (alpha thalassemia), or hemoglobin H disease (three alpha globin gene deletions). (wikipedia.org)
- Alpha-thalassemia results from gene deletions coding for the alpha-hemoglobin chain and causes a decrease in the rate of alpha-chain synthesis. (rupahealth.com)
- Alpha-thalassemia major results from four gene deletions and is the most severe form of alpha-thalassemia. (rupahealth.com)
- Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions. (medscape.com)
- DNA analysis showed no deletions within the alpha-globin gene cluster. (findzebra.com)
Genetic17
- Two genetic loci exist for α globin, thus four alleles are in diploid cells. (wikipedia.org)
- Thalassemia is diagnostically confirmed via hemoglobin analysis and genetic testing. (medscape.com)
- [ 1 ] Genetic analysis may also help to differentiate thalassemia intermedia from thalassemia major. (medscape.com)
- For example, the presence of IVSI‐5 homozygous with Xmn‐1 is a strong indicator of thalassemia intermedia, but genetic heterogeneity means that this method is not in routine use. (medscape.com)
- Because thalassemias are passed from parents to children through genes, family genetic studies also can help diagnose the disorder. (hoacny.com)
- If you know of family members who have thalassemias and you're thinking of having children, consider talking with your doctor and a genetic counselor. (hoacny.com)
- A genetic counselor can help families understand the different ways alpha thalassemia runs in families. (childrensmn.org)
- 2 Clinical genetic data accumulated over the last 30 years indicate that a natural reduction in α-globin chain output by 25-50%, resulting from co-inherited α-thalassemia, ameliorates the disease phenotype in patients with β-thalassemia. (haematologica.org)
- Additional tests, such as genetic testing and bone marrow biopsy, may be necessary to determine the type and severity of thalassemia. (kokilabenhospital.com)
- Thalassemia is an inherited disorder, so prevention strategies focus on genetic counseling and testing. (kokilabenhospital.com)
- Individuals with a family history of thalassemia should consider genetic testing before starting a family to determine their risk of passing the disorder on to their children. (kokilabenhospital.com)
- Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. (acog.org)
- Researching the genetic basis of anaemia, alpha-globin gene regulation and haemoglobin switching. (ox.ac.uk)
- My research focuses on the genetic causes of anaemia, regulation of the alpha globin locus and haemoglobin switching. (ox.ac.uk)
- Science has made it possible to detect disease and avoid it through genetic screening and gene therapy. (mastelf.com)
- Thalassemias are genetic disorders inherited from a person's parents. (drpareshmajumder.com)
- [2] Diagnosis is typically by blood tests including a complete blood count , special hemoglobin tests, and genetic tests. (drpareshmajumder.com)
Fetal hemoglobin2
- On the other hand, fetal hemoglobin can also be sampled through the unborn baby's umbilical cord. (mastelf.com)
- HPLC can be used to measure both A2 and fetal hemoglobin accurately. (mastelf.com)
Make alpha globin3
- People inherit the instructions (or genes) that make alpha globin and beta globin from their parents. (childrensmn.org)
- Every child inherits four genes that make alpha globin: two from each parent. (childrensmn.org)
- Alpha thalassaemia occurs when there is a mutation or deletion in one or more of the four alpha globin genes that are required to make alpha globin protein chains. (asianhomeocare.com)
Electrophoresis4
- Several different methods of hemoglobin analysis exist, including hemoglobin electrophoresis, capillary electrophoresis and high-performance liquid chromatography. (wikipedia.org)
- High-performance liquid chromatography (HPLC) or hemoglobin electrophoresis is used in the execution of hemoglobin analysis. (medscape.com)
- A complete blood count (CBC) can help determine the number and size of red blood cells, while a hemoglobin electrophoresis test can identify the specific type of thalassemia present. (asianhomeocare.com)
- Complete blood count and haemoglobin electrophoresis, G6PD activity and serum ferritin were determined. (who.int)
Symptoms12
- Most kids with hemoglobin H do not have symptoms when they are born. (childrensmn.org)
- What Are the Signs & Symptoms of Alpha Thalassemia Carrier or Trait? (childrensmn.org)
- People who are alpha thalassemia carriers do not have any signs or symptoms. (childrensmn.org)
- What Are the Signs & Symptoms of Hemoglobin H Disease or Alpha Thalassemia Major? (childrensmn.org)
- The signs and symptoms of methemoglobinemia, beta-globin type are generally limited to cyanosis, which does not cause any health problems. (medlineplus.gov)
- A person who is a silent carrier will have normal blood work findings and will not present with symptoms of thalassemia. (rupahealth.com)
- Both types of thalassemia require appropriate medical management, which may include regular blood transfusions, iron chelation therapy, and other treatments to manage symptoms and prevent complications. (kokilabenhospital.com)
- Individuals with mild thalassemia may not require treatment, while those with severe thalassemia may require blood transfusions , iron chelation therapy, bone marrow transplant, or other treatments to manage their symptoms and prevent complications. (kokilabenhospital.com)
- A person has one mutated gene and usually does not have any symptoms. (asianhomeocare.com)
- People with beta-thalassemia major require lifelong regular blood transfusions, along with iron chelation therapy to prevent iron overload, and other treatments to manage their symptoms and prevent complications such as heart and liver damage. (asianhomeocare.com)
- The symptoms of thalassemia can vary depending on the type and severity of the condition. (asianhomeocare.com)
- 2014) derepress zeta-globin to shed light on the regulation of this gene and investigate whether it may be de-repressed in adulthood to ameliorate the symptoms of severe alpha-thalassemia. (ox.ac.uk)
Family history of thalassemia1
- If there is a family history of thalassemia or if both parents are carriers, prenatal testing may be recommended to check for thalassemia in the developing fetus. (asianhomeocare.com)
Severity6
- The severity of the α-thalassemias is correlated with the number of affected α-globin alleles: the greater, the more severe will be the manifestations of the disease. (wikipedia.org)
- The severity of thalassemia depends on how many abnormal genes a person has inherited. (kokilabenhospital.com)
- The treatment for thalassemia depends on the type and severity of the disorder. (kokilabenhospital.com)
- [7] The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are missing. (drpareshmajumder.com)
- The frequency of thalassaemia and/or G6PD deficiency with SCD was high and this may have an effect on the severity of the clinical course of SCD in Taiz. (who.int)
- The study should be repeated with DNA analysis to define the nature of the globin gene defect and to clarify its role in the severity of SCD. (who.int)
Trait4
- People who have alpha or beta thalassemia trait may have red blood cells that are smaller than normal. (hoacny.com)
- Alpha thalassemia trait (also called alpha thalassemia minor ). (childrensmn.org)
- A double gene deletion causes alpha-thalassemia trait. (rupahealth.com)
- If both parents have thalassemia minor or are carriers of the trait, the child is at risk of developing thalassemia major. (kokilabenhospital.com)
Carrier6
- Alpha thalassemia carrier. (childrensmn.org)
- Someone who inherits one alpha thalassemia mutation is an alpha thalassemia carrier . (childrensmn.org)
- A single gene mutation results in silent carrier status. (rupahealth.com)
- Approximately 5-7% of the world population is a carrier of a severe haemoglobin disorder, including thalassaemia, and between 300-500 thousand children are born each year with a severe haemoglobin disorder. (thalassaemia.org.cy)
- The prevalence of thalassemia carrier status is about 3 to 18 % in our population. (kokilabenhospital.com)
- It is recommended to get checked thalassaemia carrier status before starting a family to help save a child from becoming a patient of thalassaemia Major - an unending cycle of blood transfusions. (kokilabenhospital.com)
Chains9
- in alpha-thalassemia, there is a quantitative decrease in the amount of alpha chains, resulting in fewer normal hemoglobin molecules. (wikipedia.org)
- The mechanism sees that α thalassemias results in decreased alpha-globin production, therefore fewer alpha-globin chains are produced, resulting in an excess of β chains in adults and excess γ chains in newborns. (wikipedia.org)
- The excess β chains form unstable tetramers called hemoglobin H or HbH of four beta chains. (wikipedia.org)
- People who have thalassemias have problems with the alpha or beta globin protein chains of hemoglobin. (hoacny.com)
- Adult hemoglobin consists of an iron-containing heme ring and four globin chains: two alpha and two beta chains. (rupahealth.com)
- The globin part of haemoglobin is a protein that consists of the alpha (α) and beta (β) parts or chains, which are produced by the α-globin genes and β-globin genes. (thalassaemia.org.cy)
- A life-threatening condition that affects fetuses and newborns, caused by having no functional alpha globin chains. (asianhomeocare.com)
- Beta thalassaemia occurs when there is a mutation in the HBB gene, which provides instructions for making the beta globin protein chains. (asianhomeocare.com)
- 2017). Both the alpha- and beta-globin loci harbour genes encoding globin chains that are specifically expressed only in the first trimester of gestation (termed embryonic globins) in addition to the genes encoding the adult globin chains that are expressed throughout adult life. (ox.ac.uk)
Molecule9
- Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. (wikipedia.org)
- Problems with the subunits that make up hemoglobin, including low levels of beta-globin, reduce or eliminate the production of this molecule. (medlineplus.gov)
- For hemoglobin to bind to oxygen, the iron within the heme molecule needs to be in a form called ferrous iron (Fe 2+ ). (medlineplus.gov)
- 5 3 Herein, we have developed and performed a targeted small molecule screen to identify compounds which downregulate α-globin expression. (haematologica.org)
- Haemoglobin disorders or haemoglobinopathies are a group of conditions affecting the molecule haemoglobin which is contained in the red blood cells. (thalassaemia.org.cy)
- Any disturbance of this structure of the haemoglobin molecule, reduces the capacity of the haemoglobin to carry oxygen to the tissues , but also disturbs the whole structure of the red blood cell containing the haemoglobin. (thalassaemia.org.cy)
- These are known as haemoglobin variants and they alter the function of the whole haemoglobin molecule. (thalassaemia.org.cy)
- The difference between alpha and beta thalassemia lies in which part of the hemoglobin molecule is affected. (kokilabenhospital.com)
- 1. Un substrat mucopolizaharidic de bază este modificat, sub acţiunea unei gene H, prin adăugarea unei molecule de L-Fucoză, rezultând substanţa H, sau antigenul H, comun pentru A şi B. Este important de menţionat faptul că substratul mucopolizaharidic are structură comună cu cea a unui antigen specific pneumococului. (scribd.com)
Types of hemoglobin2
- Hemoglobin analysis is important for the diagnosis of alpha-thalassemia as it determines the types and percentages of types of hemoglobin present. (wikipedia.org)
- Hemoglobin tests measure the types of hemoglobin in a blood sample. (hoacny.com)
Sickle7
- Replacing glutamic acid with valine causes the abnormal hemoglobin S subunits to stick together and form long, rigid molecules that bend red blood cells into a sickle (crescent) shape. (medlineplus.gov)
- Variants in the HBB gene can also cause other abnormalities in beta-globin, leading to other types of sickle cell disease. (medlineplus.gov)
- In these other types of sickle cell disease, just one beta-globin subunit is replaced with hemoglobin S. The other beta-globin subunit is replaced with a different abnormal variant, such as hemoglobin C or hemoglobin E. (medlineplus.gov)
- The most common of these are the sickle cell mutation (HbS) and the haemoglobin E (HbE) mutation. (thalassaemia.org.cy)
- You might be familiar with sickle cells and thalassemia. (mastelf.com)
- We also provide erythrocytapheresis, a type of continuous transfusion treatment in which patients have their blood filtered to replace sickle red blood cells with normal hemoglobin. (icloudhospital.com)
- The new stem cells will produce red blood cells with normal hemoglobin that will no longer sickle. (icloudhospital.com)
Production of hemoglobin2
- Alpha and beta thalassemia are two types of thalassemia, which are inherited blood disorders that affect the production of hemoglobin. (kokilabenhospital.com)
- Thalassaemia is an inherited blood disorder that affects the production of hemoglobin, a protein in the red blood cells that carries oxygen throughout the body. (asianhomeocare.com)
Deformities2
- Bone Deformities: thalassemia can make bone marrow expand, causing a widening of bones. (rupahealth.com)
- People with thalassemia may develop bone deformities, particularly in the face and skull, due to the expansion of the bone marrow. (asianhomeocare.com)
RBCs3
- Blood transfusions deliver healthy hemoglobin and RBCs to the body. (childrensmn.org)
- This reduction in erythropoiesis, as well as the shorter life span of neonatal RBCs (90 days vs 120 days in adults), causes hemoglobin (Hb) concentration to fall over the first 2 to 3 months of life (typical Hb nadir 9 to 11 g/dL [90 to 110 g/L]). This is called the physiologic nadir. (msdmanuals.com)
- Thalassemia is a disorder that affects the way RBCs are formed. (mastelf.com)
Normal hemoglobin2
- thus normal hemoglobin levels and red cell indices do not necessarily exclude the condition. (findzebra.com)
- Transfused red blood cells have normal hemoglobin and can help reduce the likelihood of blood vessel blockage and increase oxygen delivery to tissues and organs. (icloudhospital.com)
Mild2
- The patients showed a strikingly uniform phenotype comprising severe mental handicap, characteristic dysmorphic facies, genital abnormalities, and an unusual, mild form of hemoglobin H disease. (findzebra.com)
- Thalassemia can be either mild or severe. (mastelf.com)
Chromosome 16p1
- 1981), with mental retardation and alpha-thalassemia without molecular abnormalities of the alpha-globin gene complex on chromosome 16p. (findzebra.com)
Phenotype1
- The degree of impairment is based on which clinical phenotype is present (how many genes are affected). (wikipedia.org)
Carriers2
- If you're expecting a baby and you and your partner are thalassemia carriers, you may want to consider prenatal testing. (hoacny.com)
- In each pregnancy between partners who are thalassemia carriers, there is a one in four (25%) chance that their child will have normal blood, a two in four (50%) chance that the child will have thalassemia minor or a one in four (25%) chance that the child will have thalassemia major. (kokilabenhospital.com)
Mutation7
- Alpha thalassemia is caused by a mutation (or change) in the gene (or instructions) that controls how much alpha globin to make. (childrensmn.org)
- In alpha thalassemia, the body makes less alpha globin than beta globin because of the gene mutation. (childrensmn.org)
- Someone with alpha thalassemia has a change (or mutation) in the alpha globin gene that causes less alpha globin to be made than typical. (childrensmn.org)
- Thalassemia is an inherited blood disorder, meaning a gene mutation is passed on from at least one parent. (rupahealth.com)
- They can pass the gene mutation on to future children. (rupahealth.com)
- A number sign (#) is used with this entry because X-linked alpha-thalassemia/mental retardation syndrome is caused by mutation in the ATRX gene (300032) on Xq21. (findzebra.com)
- The X-linked mental retardation-hypotonic facies syndrome (309580) is also caused by mutation in the ATRX gene. (findzebra.com)
Protein in red blood1
- Hemoglobin is the protein in red blood cells that carries oxygen. (rupahealth.com)
Prevalence1
- Prevalence study and molecular characterization of alpha-thalassemia in Filipinos. (medscape.com)
Consists2
- The presentation of individuals with alpha-thalassemia consists of: Alpha-thalassemias are most commonly inherited in a Mendelian recessive manner. (wikipedia.org)
- In adults, hemoglobin consists of four protein subunits: usually two subunits of beta-globin and two subunits of a protein called alpha-globin, which is produced from another gene called HBA . (medlineplus.gov)
Abnormal hemoglobin1
- Individuals with thalassemia inherit one or more abnormal hemoglobin genes from their parents, which affects the amount and quality of hemoglobin in their red blood cells. (kokilabenhospital.com)
Hydrops fetalis3
- Alpha thalassemia major (also called hydrops fetalis ). (childrensmn.org)
- Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. (medscape.com)
- Individuals with the most severe from of alpha-thalassemia, termed Barts Hydrops Fetalis Syndrome (BHFS), most frequently die during mid-gestation. (ox.ac.uk)
Subunits3
- In this condition, hemoglobin S replaces both beta-globin subunits in hemoglobin. (medlineplus.gov)
- In hemoglobin SC (HbSC) disease, the beta-globin subunits are replaced by hemoglobin S and hemoglobin C. Hemoglobin C results when the amino acid lysine replaces the amino acid glutamic acid at position 6 in beta-globin (written Glu6Lys or E6K). (medlineplus.gov)
- Alpha-globin proteins make up two of the four subunits of every hemoglobin. (mastelf.com)
Decrease3
- The decrease in alpha globin causes an imbalance in the amount of alpha and beta globin. (childrensmn.org)
- HBB gene variants that decrease beta-globin production result in a condition called beta-plus (β + ) thalassemia. (medlineplus.gov)
- Most children with SCD should take hydroxyurea, a daily medication that increases hemoglobin F levels, which has been demonstrated to decrease or avoid some SCD consequences. (icloudhospital.com)
Bone2
- Anaemia results from the failure of adequate production of red blood cells in the bone marrow or insufficient production of the oxygen carrying metalloprotein haemoglobin. (ox.ac.uk)
- The only potentially curative therapies currently available for severe alpha-thalassemia are bone marrow transplantation and gene therapy, both of which have significant limitations for widespread use. (ox.ac.uk)
Special hemoglobin tests1
- Doctors diagnose thalassemias using blood tests , including a complete blood count (CBC) and special hemoglobin tests. (hoacny.com)
Inherits1
- This is the mildest form of beta thalassemia, in which a person inherits one mutated copy of the HBB gene and one normal copy. (asianhomeocare.com)
Disorder3
- Alpha thalassemia is an inherited blood disorder in which the body doesn't make as much alpha globin. (childrensmn.org)
- Chui DH, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. (medscape.com)
- Thalassemia is an inherited blood disorder that affects your body's ability to produce hemoglobin and healthy red blood cell. (kokilabenhospital.com)
World's1
- Thalassemia is rare, affecting only 1.7% of the world's population. (rupahealth.com)
Iron deficiency1
- Alpha-thalassemia can be mistaken for iron-deficiency anaemia on a full blood count or blood film, as both conditions have a microcytic anaemia. (wikipedia.org)
Variants7
- All such children too show high level of hemoglobin Barts on newborn screen along with other variants. (wikipedia.org)
- Most of the variants involve a change in a single DNA building block (nucleotide) within or near the HBB gene. (medlineplus.gov)
- Other variants insert or delete a small number of nucleotides in the HBB gene. (medlineplus.gov)
- Variants that prevent cells from producing any beta-globin result in beta-zero (β 0 ) thalassemia. (medlineplus.gov)
- Variants in the HBB gene have been found to cause methemoglobinemia, beta-globin type, which is a condition that alters the hemoglobin within red blood cells. (medlineplus.gov)
- In methemoglobinemia, beta-globin type, variants in the HBB gene alter the beta-globin protein and promote the heme iron to change from ferrous to ferric. (medlineplus.gov)
- This survey thus represents a complete and accurate documentation of the alpha and beta globin variants that occur in the Jamaican population. (ox.ac.uk)
Milder1
- The degree of red blood cell hypochromia and Hb H levels, which varied from 0.7 to 6.7%, were milder than usually found in alpha-thalassemia. (findzebra.com)
Beta19
- Furthermore, alpha-thalassemia leads to the production of unstable beta globin molecules which cause increased red blood cell destruction. (wikipedia.org)
- The diagnosis of beta thalassemia intermedia does not always require DNA-based genotyping, but such analysis may aid in recognizing complex thalassemias such as delta-beta and gamma-delta-delta thalassemia. (medscape.com)
- Hemoglobin is made of two alpha globins and two beta globins. (childrensmn.org)
- Alpha globins and beta globins join together to make the hemoglobin that is inside of red blood cells. (childrensmn.org)
- The HBB gene provides instructions for making a protein called beta-globin. (medlineplus.gov)
- Beta-globin is a component (subunit) of a larger protein called hemoglobin, which is located inside red blood cells. (medlineplus.gov)
- A lack of oxygen in the body's tissues can lead to poor growth, organ damage, and other health problems associated with beta thalassemia. (medlineplus.gov)
- This form is caused by a particular variant in the HBB gene that results in the production of an abnormal version of beta-globin called hemoglobin S or HbS. (medlineplus.gov)
- The variant that causes hemoglobin S changes a single protein building block (amino acid) in beta-globin. (medlineplus.gov)
- Specifically, the amino acid glutamic acid is replaced with the amino acid valine at position 6 in beta-globin, written as Glu6Val or E6V. (medlineplus.gov)
- These abnormal forms of beta-globin are often designated by letters of the alphabet or sometimes by a name. (medlineplus.gov)
- What is Beta-Thalassemia? (rupahealth.com)
- Muncie HL Jr, Campbell J. Alpha and beta thalassemia. (medscape.com)
- beta thalassaemia was relatively rare. (ox.ac.uk)
- There are two main types of thalassaemia: Alpha and Beta thalassaemia. (asianhomeocare.com)
- This is a moderate form of beta-thalassemia. (asianhomeocare.com)
- This is the most severe form of beta-thalassemia. (asianhomeocare.com)
- To tell alpha-thalassemia and beta-thalassemia apart, doctors can look at the red blood cells through a microscope. (mastelf.com)
- [2] There are two main types, alpha thalassemia and beta thalassemia . (drpareshmajumder.com)
Form of hemoglobin1
- Whether you have a modified gene or some DNA fragments are missing from you, your body will produce an abnormal form of hemoglobin. (mastelf.com)
Amount of hemoglobin2
- A CBC measures the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood. (hoacny.com)
- Therefore, they also don't have enough room for the average amount of hemoglobin. (mastelf.com)
Jaundice1
- People with thalassemia may have pale skin and a yellowish tint to their skin and eyes (jaundice) due to the breakdown of red blood cells. (asianhomeocare.com)
Incompatible with life1
- citation needed] Deletion of four alpha globin genes was previously felt to be incompatible with life, but there are currently 69 patients who have survived past infancy. (wikipedia.org)
Fewer2
- People who have thalassemias have fewer healthy red blood cells and less hemoglobin than normal in their blood. (hoacny.com)
- The body makes fewer alpha-globin proteins than normal in individuals with the condition. (mastelf.com)
HPLC1
- The adoption of CE-HPLC or cation-exchange HPLC to diagnose thalassemia has been rapid. (mastelf.com)
Screening1
- The ability to measure hemoglobin Barts makes it useful in newborn screening tests. (wikipedia.org)
Anaemia3
- Alpha(+)-thalassaemia and malarial anaemia. (medscape.com)
- Individuals with thalassemia disease are unable to make enough hemoglobin, which leads to severe anaemia. (kokilabenhospital.com)
- As part of this work I have identified a novel gene, C15ORF41, underlying a type of anaemia termed Congenital Dyserythropoietic Anaemia type I (CDA-I) (Babbs et al. (ox.ac.uk)
Proteins1
- I am developing a live-cell model in which chromatin at the alpha globin promoter and enhancer sequences is bound by fluorescently labelled proteins. (ox.ac.uk)
Oxygen7
- Hemoglobin is the part of red blood cell (RBC) that carries oxygen throughout the body. (childrensmn.org)
- Hemoglobin within red blood cells binds to oxygen molecules in the lungs. (medlineplus.gov)
- Hemoglobin that contains ferric iron is known as methemoglobin and is unable to efficiently deliver oxygen to the body's tissues. (medlineplus.gov)
- Hemoglobin helps carry oxygen to all the parts of the body. (kokilabenhospital.com)
- Low hemoglobin levels make your organs starved for oxygen and they are unable to function properly. (kokilabenhospital.com)
- Thalassemia can cause the heart to work harder to pump oxygen-rich blood throughout the body, leading to shortness of breath and chest pain. (asianhomeocare.com)
- Children with thalassemia may have delayed growth and development due to the lack of oxygen and nutrients in their body's tissues. (asianhomeocare.com)
Frequency2
- In contrast, alpha thalassaemia was quite common, occurring with a gene frequency of 0.183. (ox.ac.uk)
- Almost every population carries a particular frequency of thalassemia. (mastelf.com)
India2
- Alpha thalassaemia in tribal communities of coastal Maharashtra, India. (medscape.com)
- Each year, at least 10,000 children are born in India with Thalassemia Major. (kokilabenhospital.com)
Blood12
- In hemoglobin H disease, red blood cells containing hemoglobin H inclusions can be visualized on the blood smear using new methylene blue or brilliant cresyl blue stain. (wikipedia.org)
- Peripheral blood film in thalassemia intermedia. (medscape.com)
- Some people with hemoglobin H disease need frequent blood transfusions to help them grow and develop well. (childrensmn.org)
- After they're born, babies with alpha thalassemia major need frequent blood transfusions to survive. (childrensmn.org)
- People with hemoglobin H and alpha thalassemia major also buildup extra iron in the body, either from the disease itself or from frequent blood transfusions. (childrensmn.org)
- A lack of hemoglobin disrupts the normal development of red blood cells. (medlineplus.gov)
- Thalassemia can be diagnosed through a blood test that measures the amount and quality of hemoglobin in the blood. (kokilabenhospital.com)
- The primary benefit of Homeopathy treatment of Thalassemia is "It can reduce repeated blood transfusions" and hospital visits. (asianhomeocare.com)
- The major treatment for severe alpha-thalassemia is symptomatic care and transfusion of red blood cells as clinically necessary. (ox.ac.uk)
- If you have thalassemia, your body does not make enough healthy red blood cells, which means you might be in for more health troubles. (mastelf.com)
- In people with alpha-thalassemia, the red blood cells have an unusual shape. (mastelf.com)
- ''Thalassemias are inherited blood disorders characterized by decreased hemoglobin production. (drpareshmajumder.com)
Spleen1
- Thalassemia can cause the spleen and liver to become enlarged, which can lead to abdominal pain and discomfort. (asianhomeocare.com)
Prenatal1
- Prenatal control of nondeletional a-thalassemia: first experience in mainland China. (medscape.com)
Typically1
- Children with Thalassemia Major typically exhibit failure to thrive, show weight loss, irritability, poor feeding, and pale appearance by the time they are 6 months old. (kokilabenhospital.com)