Adult Onset of a Thalassemia Intermedia Genotype in Association with a − α^{− 3.7} Homozygosity. Hb G-Accra [β73(E17)Asp→Asn] in Combination with β- and α-Thalassemia in the Same Family

Abstract

We present the case of a 39-year-old male of mixed Black and Chinese Surinamese origin referred because of abdominal pain and extreme tiredness. The patient reported that he had received a single blood transfusion in his youth and presented at intake with a severe microcytic hypochromic anemia. A chest X-ray and computer tomography (CT)-scan revealed bilateral mediastinal lymphadenopathy and interstitial infiltrates. Elevated Hb F (80%) and an unbalanced syntheis ratio (β/α = 0.18) were compatible with severe β-thalassemia (thal) intermedia. DNA analysis revealed a double heterozygoty for the − 88 (C→T) and the IVS-II-654 (C→T) mutations in the presence of a homozygosity for the − α^3.7 deletion. The two daughters of the proband were both heterozygous for the IVS-II-654 (C→T) mutation and the − α^3.7 deletion. The youngest daughter also carried the Hb G-Accra [β73(E17)Asp→Asn] mutation, inherited from the mother. Hb G-Accra, a mutant of presumed Ghanaian origin, described as non pathological in the carrier, is reported for the first time in combination with a severe β⁺-thal. The molecular background, haplotype of the mutations and a new A→G polymorphism at − 309, 5′ to the ^Gγ promoter, are reported.

• Hb-G Accra [β73(E17)Asp→Asn]
• Mild β-thalassemia (thal)