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Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 [5] and HBA2. [6] Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin , the molecule that carries oxygen in the blood. [ 7 ]
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 ...
β thalassemia major (Mediterranean anemia or Cooley anemia) is caused by a β o /β o genotype. No functional β chains are produced, and thus no hemoglobin A can be assembled. This is the most severe form of β-thalassemia; β thalassemia intermedia is caused by a β + /β o or β + /β + genotype. In this form, some hemoglobin A is produced;
If these are different versions of the same gene, one having been inherited from each parent it is an example of compound heterozygosity. Both alpha- and beta- thalassemia can coexist with other hemoglobinopathies. Combinations involving alpha thalassemia are generally benign. [30] [31]
If both parents are carriers for the autosomal recessive gene, there is a 75% chance the child will be normal and a 25% chance of having and expressing the disorder. There are various autosomal recessive disorders and hemoglobin pathogens, among these, beta-thalassemia is associated with changes in HbA2 levels in our blood.
Alpha-thalassemia (α-thalassemia) is defined by a lack of α-globin chain production in hemoglobin, and those who carry a mutation impacting the α-globin chain on only one chromosome are considered to have a “silent” α-thalassemia whereas, if the mutation is on both then it is considered an α-thalassemia trait.
The Patient-Family Conference gives members of the thalassemia community an opportunity to get together with other patients and family members in order to hear up-to-date information from doctors, nurses and scientists with significant experience in thalassemia. In addition, patients and family members share their own experiences and establish ...
If both parents were carriers of a defective gene associated with a disease or disorder, they would both have the disorder. Their children would inherit the disorder as follows: Of their daughters: 100% will have the disorder, since all of the daughters will receive a copy of their father's X chromosome.