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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. [ 4 ]
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. [56] [57]
The most severe form of α -thalassemia is a condition that begins at infancy in which there is no expression of α-genes and results in a large production of hemoglobin Bart's . [11] The most common cause of Hb Bart’s is the inheritance of a deletion allele in that lacks functional α-globin genes from both parents. [9]
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 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.
Hemoglobin H disease, also called alpha-thalassemia intermedia, is a disease affecting hemoglobin, the oxygen carrying molecule within red blood cells. It is a form of Alpha-thalassemia which most commonly occurs due to deletion of 3 out of 4 of the α-globin genes.
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.
Fetal Hemoglobin (HbF) concentration and the presence of alpha-thalassemia, a genetic blood disease in which the alpha globin subunit of the hemoglobin protein is underproduced, are thought to be major contributors to the genetic modification leading to the variable expressivity of hemolysis (destruction of red blood cells) and increasing the ...