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Anemia and Hydrops in a Fetus With Homozygous Hemoglobin Constant Spring

1 Dec 2006

Abstract excerpt

Hemoglobin Constant Spring (Hb CS) is an unstable hemoglobin (Hb) variant that results from a nucleotide substitution at the termination codon of the alpha2-globin gene. The compound heterozygosity of alpha-thalassemia and Hb CS (--/alphaCSalpha) results in a Hb H/CS disease which is clinically more severe than deletional Hb H disease. Homozygosity of Hb CS (alphaCSalpha/alphaCSalpha) is generally characterized...

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PMID: 17164653
DOI: 10.1097/01.mph.0000243662.56432.37

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