Document Detail

The association of Hb Khartoum [beta124(H2)Pro-->Arg] with gamma+-thalassemia is responsible for hemolytic disease in the newborn of a Sudanese family.
MedLine Citation:
PMID:  10081984     Owner:  NLM     Status:  MEDLINE    
The unstable Hb Khartoum with a Pro-->Arg replacement at position beta124 was identified by isoelectrofocusing, high performance liquid chromatography, and peptide mapping in a mother and two male children of a Sudanese family. All three were heterozygous for the abnormal hemoglobin; the father and a third male child did not carry the mutation. The mother was also homozygous for two putative gamma+-thalassemia point mutations, one affecting both Agamma and Ggamma genes at IVS-II-115 (A-->G), and one affecting the Ggamma gene at the 3' untranslated region (-A) at position -6 from the polyadenylation site. The father had normal gamma genes. All three children were heterozygous for both the gamma+-thalassemia mutations. The two older children, who were compound heterozygotes for Hb Khartoum/gamma+-thalassemia, presented at birth with severe neonatal jaundice which necessitated exchange blood transfusions. Other causes of neonatal jaundice were excluded. The third male child, who did not carry the Hb Khartoum anomaly but was heterozygous for gamma+-thalassemia, did not develop neonatal jaundice. It is concluded that the instability of Hb Khartoum in combination with gamma+-thalassemia is responsible for neonatal hemolytic anemia in this family.
R A Bayoumi; A Dawodu; M M Qureshi; A Al-Khider; P Fitzgerald; J Riou; C A Fisher; A Fitches; J M Old
Related Documents :
14587664 - Characterization of four novel variants of goat beta(a) -globin gene.
18353524 - Non-invasive first-trimester detection of paternal beta-globin gene mutations and polym...
12897784 - Mutations associated with neutropenia in dogs and humans disrupt intracellular transpor...
9048934 - Identification of novel asian indian and japanese mutations causing beta-thalassaemia i...
17623484 - Genetic variant in the hspb1 promoter region impairs the hsp27 stress response.
22666734 - Mutation analysis in two chinese families with multiple endocrine neoplasia type 1.
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Hemoglobin     Volume:  23     ISSN:  0363-0269     ISO Abbreviation:  Hemoglobin     Publication Date:  1999 Feb 
Date Detail:
Created Date:  1999-06-22     Completed Date:  1999-06-22     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7705865     Medline TA:  Hemoglobin     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  33-45     Citation Subset:  IM    
College of Medicine, Sultan Qaboos University, Muscat, Oman.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Child, Preschool
Erythroblastosis, Fetal / genetics*
Hemoglobins, Abnormal / genetics*
Infant, Newborn
Point Mutation
Thalassemia / genetics
Reg. No./Substance:
0/Hemoglobins, Abnormal; 0/hemoglobin Khartoum; 147-85-3/Proline; 74-79-3/Arginine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Two hemoglobin variants with an alteration of the oxygen-linked chloride binding: Hb Antananarivo [a...
Next Document:  Southeast Asian ovalocytosis in White persons.