Hemoglobin Hakkari: an autosomal dominant form of beta thalassemia with inclusion bodies arising from de novo mutation in exon 2 of beta globin gene.
Certain beta globin gene mutations produce a thalassemia major phenotype in the heterozygous state. While most such patients have thalassemia intermedia, we describe a young Guatemalan child with a de novo mutation in the beta globin gene, codon 31 T --> G (Hemoglobin Hakkari), who developed severe anemia at the age of 10 months and remains transfusion-dependent. The substitution of B13 leucine with arginine in the beta globin results in alteration of a critical heme contact point resulting in an extremely unstable variant hemoglobin and a clinical picture that is characterized by ineffective erythropoiesis and numerous intracytoplasmic inclusions within the erythrocyte precursors of the bone marrow. .
Children's Hospital and Research Center Oakland, Oakland, California 94609, USA. bkanath@mail.cho.org
B
B
Kanathezhath
F K
FK
Hazard
H
H
Guo
J
J
Kidd
M
M
Azimi
F A
FA
Kuypers
E P
EP
Vichinsky
A
A
Lal
D006166:Guatemala; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D002479:Inclusion Bodies; D007223:Infant; D008297:Male; D017354:Point Mutation; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics* / Q000473:pathology
D006455:Hemoglobins, Abnormal; D055544:beta-Globins