A novel alpha-thalassemia nonsense mutation in HBA2: C.382 A > T globin gene.

[alpha-thalassemia]

In this study , a new alpha globin gene mutation on the α 2 -globin gene is reported . This mutation resulted in a Lys > stop codon substitution at position 127 which was detected in four individuals (three males and one female ). DNA sequencing revealed this mutation in unrelated persons in Khuzestan province , Southwestern Iran of Lor ethnicity . This mutation caused no severe hematological abnormalities in the carriers . From the nature of substituted residues in α 2 -globin , it is widely expected that this mutation leads to unstable and truncated protein and should be detected in couples at risk for α-thalassemia .

Diseases
Validation

Diseases presenting "abnormalities in the carriers" symptom

alpha-thalassemia

You can validate or delete this automatically detected symptom