Combinations of beta chain abnormal hemoglobins with each other or with beta-thalassemia determinants with known mutations: influence on phenotype.
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 molecular level to aid the physician in the management of patients with different combinations of abnormalities. Simplification and commercialization of modern technology may make the introduction of this approach in some clinical chemistry laboratories possible.
Huisman
T H
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Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta 30912-2114, USA. research.acarver@mail.mcg.edu
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D017086:beta-Thalassemia / Q000097:blood* / Q000235:genetics
D006455:Hemoglobins, Abnormal