Article
Unusual phenotypic observations associated with a rare HbH disease genotype (- -Med/alphaTSaudialpha): implications for clinical management.
British journal of haematology - 1 Oct 2002
Traeger-Synodinos Joanne, Papassotiriou Ioannis, Karagiorga Markissia, Premetis Evangelos, Kanavakis Emmanuel, Stamoulakatou Alexandra
Abstract excerpt
A single patient with a rare Haemoglobin H (HbH) disease genotype (- -Med/alphaTSaudialpha) was observed to have exceptionally high levels of HbH (> 60%) and paradoxically high total haemoglobin levels. Studies of haematological parameters, blood biochemistry and oxygen transport properties revealed a severe functional anaemia, associated with marked erythropoietic stimulation and a markedly raised cardiac...
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