Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT].
| Title: | Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]. |
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| Authors: | Dainer E; Department of Medicine, Medical College of Georgia, Augusta, GA 30912, USA.; Shell R; Miller R; Atkin JF; Pastore M; Kutlar A; Zhuang L; Holley L; Davis DH; Kutlar F |
| Source: | Hemoglobin [Hemoglobin] 2008; Vol. 32 (6), pp. 596-600. |
| Publication Type: | Case Reports; Journal Article |
| Language: | English |
| Journal Info: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 7705865 Publication Model: Print Cited Medium: Internet ISSN: 1532-432X (Electronic) Linking ISSN: 03630269 NLM ISO Abbreviation: Hemoglobin Subsets: MEDLINE |
| Imprint Name(s): | Publication: London : Informa Healthcare; Original Publication: New York, Dekker. |
| MeSH Terms: | Cyanosis/*genetics ; Fetal Hemoglobin/*genetics ; Globins/*genetics; Cyanosis/etiology ; Histidine/chemistry ; Histidine/genetics ; Leucine/chemistry ; Leucine/genetics ; Mutation/genetics ; Amino Acid Substitution ; Base Sequence ; Female ; Hemoglobins, Abnormal ; Humans ; Infant, Newborn ; Male ; Molecular Sequence Data |
| Abstract: | Neonatal cyanosis can result from a multitude of acquired and inherited causes. Cyanosis resulting from fetal M hemoglobin (Hb) variants is very rare. Only two (G)gamma variants causing methemoglobinemia and cyanosis in the newborn have been reported to date. Here we describe a novel fetal Hb variant, Hb F-Circleville [Ggamma63(E7)His-->Leu], associated with methemoglobinemia and cyanosis in the newborn. The patient's sister also had neonatal cyanosis at birth. |
| Molecular Sequence: | GENBANK AY662983 |
| Substance Nomenclature: | 0 (Hemoglobins, Abnormal); 4QD397987E (Histidine); 9004-22-2 (Globins); 9034-63-3 (Fetal Hemoglobin); GMW67QNF9C (Leucine) |
| Entry Date(s): | Date Created: 20081210 Date Completed: 20090202 Latest Revision: 20131121 |
| Update Code: | 20260130 |
| DOI: | 10.1080/03630260802507915 |
| PMID: | 19065339 |
| Database: | MEDLINE |
Case Reports; Journal Article