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Alpha thalassemia is caused by deficient production of the alpha globin component of hemoglobin, while beta thalassemia is a deficiency in the beta globin component. [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 faulty. [2]
Alpha-thalassemia (α-thalassemia, α-thalassaemia) is an inherited blood disorder and a form of thalassemia. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin , the molecule that carries oxygen in the blood. [ 5 ]
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.
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 ...
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.
Carrier testing can help guide the decisions of couples who are at high risk, e.g.: Both of Jewish descent – Several disorders including Tay–Sachs disease. The organization Dor Yeshorim offers testing in many countries. [citation needed] Both Cypriot – Thalassemia. Testing is fully subsidized and mandated in both jurisdictions on Cyprus.
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.
If both have a concentration above 3.5% (diagnostic of thalassemia trait) they are referred to the local designated health post for genetic counseling. [ 27 ] In 2008, in Spain , a baby was selectively implanted in order to be a cure for his brother's thalassemia.
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