First observation of hemoglobin m saskatoon (ß63 (e7) his>tyr(c-t)) in the iraqi population.

Abstract

Hemoglobin M Saskatoon (s63 His>Tyr(C-T)) is a rare hemoglobin variant that was first reported in Japan, followed by the US, Indonesia, Algeria, Russia, India, and Germany [1-8]. It was also reported in combination with another variant—Hb Hamilton [9]; however, it has yet to reported in the Turkish population [10,11]. The present report describes the first observation of this variant in an 9-year-old Iraqi boy that presented with fatigue and greyblue discoloration of the distal extremities and mucous membranes since birth. Physical examination showed cyanosis and clubbing of the fingers and toes. Complete blood count, reticulocyte count, liver and renal function tests, and abdominal ultrasound were normal. Echocardiography and angiography showed no abnormality. Blood gas analysis showed an O2 saturation of 91% and a methemoglobin level of 24.5%. Capillary hemoglobin electrophoresis showed hemoglobin M (Iwate or Saskatoon). Family history was unremarkable.