| The association of Hb Khartoum [beta124(H2)Pro-->Arg] with gamma+-thalassemia is responsible for hemolytic disease in the newborn of a Sudanese family. | |
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MedLine Citation:
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PMID: 10081984 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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R A Bayoumi; A Dawodu; M M Qureshi; A Al-Khider; P Fitzgerald; J Riou; C A Fisher; A Fitches; J M Old |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Hemoglobin Volume: 23 ISSN: 0363-0269 ISO Abbreviation: Hemoglobin Publication Date: 1999 Feb |
Date Detail:
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Created Date: 1999-06-22 Completed Date: 1999-06-22 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7705865 Medline TA: Hemoglobin Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 33-45 Citation Subset: IM |
Affiliation:
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College of Medicine, Sultan Qaboos University, Muscat, Oman. bayoumo@gto.net.om |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Arginine Child Child, Preschool Erythroblastosis, Fetal / genetics* Female Hemoglobins, Abnormal / genetics* Humans Infant Infant, Newborn Male Point Mutation Proline Sudan Thalassemia / genetics |
| Chemical | |
Reg. No./Substance:
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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
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