Severe α-thalassemia intermedia due to a compound heterozygosity for the highly unstable Hb Adana (HBA2: c.179G>A) and a novel codon 24 (HBA2: c.75T>A) mutation.

[alpha-thalassemia]

We report a novel mutation at codon 24 of the α 2 -globin gene (HBA 2 : c .75 T > A ) found in a Sundanese family . This novel mutation was detected during prenatal diagnosis . The couple already had a 7 -year -old boy who exhibited clinically severe α-thalassemia intermedia (α-TI ), and he was found to be a compound heterozygote for the novel mutation at codon 24 and the previously described Hb Adana (HBA 2 : c .179 G > A ) at codon 59 of the α 2 -globin gene . The father was a carrier of the novel point mutation and showed normal hemoglobin (Hb ) and a low mean corpuscular volume (MCV ) and mean corpuscular Hb (MCH ) value .

Diseases
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Diseases presenting "clinically severe α-thalassemia intermedia" symptom

alpha-thalassemia

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