Hemoglobin D [Hb D Punjab/ Los Angeles and Hb D Iran] and Co-Inheritance with Alpha- and Beta- Thalassemia in southern Iran

ABSTRACT

Hemoglobin-D [Hb D] is an uncommon structural hemoglobin variant, which is reported to be prevalent in north western India. There are only a few small series, of this entity in the literature. We report the largest single center experience on this entity from Iran. Between November 2002 and December 2010 as a result of screening premaritally for betathalassemia in Shiraz, Fars Province, Southern Iran, column chromatography, Hb electrophoresis, solubility test, and/or high performance liquid chromatography [HPLC], direct sequencing and restriction analysis were used for hemoglobinopathies and structural Hb variants. The data of 220 subjects with Hb D variants are analyzed in this report. These comprised of 180 carries of Hb D; 92 cases of Hb D Punjab/Los Angeles [beta 121[Glutamic acid -> Glutamine]] and 88 subjects with Hb D Iran [beta 22 [Glu- > Gln]], 3 homozygous cases for Hb D, 17 subjects with betathalassemia- Hb D, 12 with Hb D- alpha- thalassemia- 1, 3 homozygous Hb D- alpha thalassemia- 1 trait, one with Hb D Punjab - sickle cell anemia, and two with Hb D Iran/sickle cell anemia. The carriers of Hb D and homozygous cases for Hb D were not anemic and had normal red blood cell morphology, as they are not usually detected. If Hb D was inherited in combination with thalassemia, the subjects had mild anemia and in some of them, the spleen was palpable [1-2 cm]. Co-inheritance of alpha thalassemia and Hb D resulted in the slightly higher Hb level and lower Hb D level as compared to Hb D/ betathalassemia cases [Hb D 24-37% vs 57-88%]. Co inheritance of Hb D and sickle cell results was moderate to severe hemolytic anemia