Case report: alpha G-Philadelphia, beta O-Arab, and beta C globins present in a single patient.
The case of a 7-month-old Nigerian child who presented with anemia and microcytosis is described. Hemoglobin electrophoresis studies revealed a band with pronounced cathodic mobility. This represented a heterohybrid hemoglobin tetramer composed of an alpha-globin mutant, G-Philadelphia (alpha GPhil), and two variant beta-globin chains, beta C and beta O-Arab. The absolute amounts of alpha GPhil found in the propositus were less than expected for an alpha 2-globin gene product. It has not been established whether alpha G-Philadelphia interacting with beta O-Arab and beta C globin chains is the cause of the microcytosis.
Prchal
J T
JT
Division of Hematology, University of Alabama, Birmingham 35294.
Kutlar
A
A
Hall
K
K
Robinson
C A
CA
Scott
C W
CW
D000740:Anemia / Q000097:blood* / Q000235:genetics; D005260:Female; D005914:Globins / Q000032:analysis*; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D007223:Infant; D009154:Mutation; D010375:Pedigree
D006455:Hemoglobins, Abnormal; D005914:Globins; C031679:hemoglobin G Philadelphia; C032031:hemoglobin Arab