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Beta-thalassemia has beta globin chains that are reduced and alpha-thalassemia has alpha globin chains that are also reduced. [5] This disorder is the most common autosomal recessive disorder in some countries. [6] Hemoglobin A2 is employed to diagnose thalassemia disorders, encompassing both beta and alpha types.
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 ]
Carriers of thalassemia genes may have no symptoms (thalassemia minor), very mild symptoms with occasional crisis (thalassemia intermedia) or severe and life threatening symptoms (thalassemia major). [17] Alpha thalassemia major is generally fatal to the unborn child, as zero functional hemoglobin is produced during gestation.
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.
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked intellectual disability syndrome, nondeletion type or ATR-X syndrome, [1] is an X-linked recessive condition associated with a mutation in the ATRX gene. [2]
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 ...
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.
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