[Hemoglobin O Arab in interaction with beta 0-thalassemia].

Abstract

Clinical, hematologic and hemoglobin composition data on the first case of Hb 0-Arab in association with beta 0-thalassemia in Yugoslavia are reported here. The propositus was a 26-years-old female from Strumica who was admitted to the hospital for several times because of anemia, hepatosplenomegaly, occasional abdominal pains, malaise and fatigue. Laboratory results presented: Hb 10.0 g/dl, RBC 3.84.10(12)/L, PCV 0.260 l/l, MCV 68 fl, MCH 26 pg, reticulocyte count 1.8%, anisopoikilocytosis, polychromasis, numerous target cells, total bilirubin 2.1 mg/dl, (indirect 1.7 mg/dl), serum-Fe 32.3 microM/L. A starch gel electrophoresis of hemolysate provided evidence for the presence of abnormal hemoglobin (approximately 85%) and Hb F (approximately 15%); the Hb A was absent. Familial screening showed her father was heterozygous for the abnormal hemoglobin, whereas the mother was heterozygous for beta-thalassemia. In vitro biosynthesis disclosed a total absence of beta globin and reduced synthesis of beta x x and gamma globin. The alpha/beta x + gamma-globin ratio was 1.77 (normal, 1.0 + 0.1). Amino acid analysis revealed that lysine substituted for glutamic acid at the position one hundred twenty-one of the beta chain (= Hb 0-Arab or beta 121 Glu----Lys).

• Authors: N Nikolov, M Andreeva, L Janković, G D Efremov
• Journal: Lijecnicki vjesnik (Lijec Vjesn) 1989 Jan-Feb Vol. 111 Issue 1-2 Pg. 27-30 ISSN: 0024-3477 [Print] Croatia
• Vernacular Title: Hemoglobin O-Arabija u interakciji sa beta 0-talasemijom.
• PMID: 2739498 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Arab

Topics

• Adolescent
• Adult
• Child, Preschool
• Female
• Hemoglobins, Abnormal (analysis, genetics)
• Humans
• Middle Aged
• Pedigree
• Thalassemia (blood, genetics)