Combinations of beta chain abnormal hemoglobins with each other or with beta-thalassemia determinants with known mutations: influence on phenotype.

Abstract excerpt

Hematological and hemoglobin (Hb) data are presented for numerous patients with compound heterozygosities for different beta chain variants and for a beta chain variant with different beta-thalassemia (beta-thal) alleles. Considerable variations, which result from the type of beta chain variant and beta-thal mutation, can be noted. The comparison again emphasizes the importance of determining the diagnoses at the...

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