Mutant Fetal Hemoglobin Causing Cyanosis in a Newborn-Reference-Cited by-同舟云学术

Mutant Fetal Hemoglobin Causing Cyanosis in a Newborn

Published:1989-05-01 Issue:5 Volume:83 Page:734-736
ISSN:0031-4005
Container-title:Pediatrics
language:en
Short-container-title:

Author:

Priest John R.¹,Watterson Jan¹,Jones Richard T.¹,Faassen Anne E.¹,Hedlund Bo E.¹

Affiliation:

1. The Department of Pediatric Hematology/Oncology, Children's Hospital of St Paul, St Paul; Department of Biochemistry, Oregon Health Sciences University, Portland, Oregon; and Dight Laboratories, University of Minnesota, Minneapolis

Abstract

A well but cyanotic newborn was found to have a mutant γ-globin chain, leading to a functionally abnormal fetal hemoglobin. A single amino acid substitution was found in a site consistent with known adult M hemoglobins. This patient showed no clinical evidence of cyanosis at 5 weeks of age as γ-chain synthesis was replaced by β-chain synthesis. A sibling born 20 months later was also cyanotic and the same mutant hemoglobin was found.

Publisher

American Academy of Pediatrics (AAP)

Subject

Pediatrics, Perinatology, and Child Health

Link

https://publications.aap.org/pediatrics/article-pdf/83/5/734/1041049/734.pdf

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1. Case Report: A case report and literature review of hemoglobin variation associated with neonatal cyanosis;Frontiers in Pediatrics;2024-02-13

2. Case report of congenital methemoglobinemia: an uncommon cause of neonatal cyanosis;Maternal Health, Neonatology and Perinatology;2022-09-16

3. The journey from blue to pink–a rare cause for self-limiting methemoglobinemia in an Indian baby;Case Reports in Perinatal Medicine;2022-01-01

4. Recommendations for diagnosis and treatment of methemoglobinemia;American Journal of Hematology;2021-09-23

5. Transient Neonatal Cyanosis Associated With a New Hb F Variant;Journal of Pediatric Hematology/Oncology;2013-03