DOUBLE HETEROZYGOSITY FOR Hb NEW YORK [β113 GTG→GAG; VAL→GLU] AND β°-THALASSEMIA MUTATIONS MANIFESTS AS A THALASSEMIA TRAIT

Abstract

An extended family with three individuals affected by two different forms of double heterozygosity for β-thalassemia and Hb New York is reported. Double heterozygosity of Hb New York [β113 GTG→GAG; VAL→GLU] and β° codon 17 was detected in a fetus following prenatal screening for thalassemia. The father and a paternal aunt were also found to be heterozygous for Hb New York and β° IVSII-654. Both adults had clinical and hematological features consistent with β-thalassemia trait. The affected child was followed up after birth and manifested the typical course of a thalassemia trait, with no signs of organomegaly or overt hemolysis. Observations strongly suggest that double heterozygosity of Hb New York and β° thalassemia has mild, if any, clinical symptoms, and is not an indication of therapeutic abortion when detected antenatally.

Keywords:

• hemoglobin New York
• prenatal diagnosis
• thalassemia