Aplastic crisis revealing the diagnosis of Hb Evans [α62(E11) Val→Met, GTG→ATG (α2)] in a Hispanic kindred: Case report and review

Laurie A. Steiner, Jack Van Hoff, Ferdane Kutlar, Patrick G. Gallagher

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

This report describes a Hispanic girl who presented in aplastic crisis due to parvovirus infection. She was subsequently found to have a chronic hemolytic anemia secondary to an unstable hemoglobinopathy. Genetic testing revealed that the girl and two symptomatic family members had Hb Evans [α62(E11) Val→Met, GTG→ATG (α2)], an unstable hemoglobin (Hb) variant due to a mutation in the α2-globin chain. Hb Evans has been described only once previously, in a Caucasian kindred. Literature review indicates aplastic crisis is a rare initial presentation of unstable hemoglobinopathies and that these disorders are infrequent but important causes of hemolytic anemia in Hispanic patients.

Original languageEnglish (US)
Pages (from-to)409-416
Number of pages8
JournalHemoglobin
Volume31
Issue number4
DOIs
StatePublished - Oct 1 2007

Fingerprint

Hemoglobinopathies
Hemolytic Anemia
Hispanic Americans
Parvoviridae Infections
Globins
Genetic Testing
Hemoglobins
Mutation
Testing
hemoglobin Evans

Keywords

  • Aplastic anemia
  • Hb Evans
  • Unstable hemoglobin (Hb)

ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Genetics(clinical)
  • Biochemistry, medical

Cite this

Aplastic crisis revealing the diagnosis of Hb Evans [α62(E11) Val→Met, GTG→ATG (α2)] in a Hispanic kindred : Case report and review. / Steiner, Laurie A.; Van Hoff, Jack; Kutlar, Ferdane; Gallagher, Patrick G.

In: Hemoglobin, Vol. 31, No. 4, 01.10.2007, p. 409-416.

Research output: Contribution to journalArticle

Steiner, Laurie A. ; Van Hoff, Jack ; Kutlar, Ferdane ; Gallagher, Patrick G. / Aplastic crisis revealing the diagnosis of Hb Evans [α62(E11) Val→Met, GTG→ATG (α2)] in a Hispanic kindred : Case report and review. In: Hemoglobin. 2007 ; Vol. 31, No. 4. pp. 409-416.
@article{98114338a0814c3b8330803896d6ac81,
title = "Aplastic crisis revealing the diagnosis of Hb Evans [α62(E11) Val→Met, GTG→ATG (α2)] in a Hispanic kindred: Case report and review",
abstract = "This report describes a Hispanic girl who presented in aplastic crisis due to parvovirus infection. She was subsequently found to have a chronic hemolytic anemia secondary to an unstable hemoglobinopathy. Genetic testing revealed that the girl and two symptomatic family members had Hb Evans [α62(E11) Val→Met, GTG→ATG (α2)], an unstable hemoglobin (Hb) variant due to a mutation in the α2-globin chain. Hb Evans has been described only once previously, in a Caucasian kindred. Literature review indicates aplastic crisis is a rare initial presentation of unstable hemoglobinopathies and that these disorders are infrequent but important causes of hemolytic anemia in Hispanic patients.",
keywords = "Aplastic anemia, Hb Evans, Unstable hemoglobin (Hb)",
author = "Steiner, {Laurie A.} and {Van Hoff}, Jack and Ferdane Kutlar and Gallagher, {Patrick G.}",
year = "2007",
month = "10",
day = "1",
doi = "10.1080/03630260701590301",
language = "English (US)",
volume = "31",
pages = "409--416",
journal = "Hemoglobin",
issn = "0363-0269",
publisher = "Informa Healthcare",
number = "4",

}

TY - JOUR

T1 - Aplastic crisis revealing the diagnosis of Hb Evans [α62(E11) Val→Met, GTG→ATG (α2)] in a Hispanic kindred

T2 - Case report and review

AU - Steiner, Laurie A.

AU - Van Hoff, Jack

AU - Kutlar, Ferdane

AU - Gallagher, Patrick G.

PY - 2007/10/1

Y1 - 2007/10/1

N2 - This report describes a Hispanic girl who presented in aplastic crisis due to parvovirus infection. She was subsequently found to have a chronic hemolytic anemia secondary to an unstable hemoglobinopathy. Genetic testing revealed that the girl and two symptomatic family members had Hb Evans [α62(E11) Val→Met, GTG→ATG (α2)], an unstable hemoglobin (Hb) variant due to a mutation in the α2-globin chain. Hb Evans has been described only once previously, in a Caucasian kindred. Literature review indicates aplastic crisis is a rare initial presentation of unstable hemoglobinopathies and that these disorders are infrequent but important causes of hemolytic anemia in Hispanic patients.

AB - This report describes a Hispanic girl who presented in aplastic crisis due to parvovirus infection. She was subsequently found to have a chronic hemolytic anemia secondary to an unstable hemoglobinopathy. Genetic testing revealed that the girl and two symptomatic family members had Hb Evans [α62(E11) Val→Met, GTG→ATG (α2)], an unstable hemoglobin (Hb) variant due to a mutation in the α2-globin chain. Hb Evans has been described only once previously, in a Caucasian kindred. Literature review indicates aplastic crisis is a rare initial presentation of unstable hemoglobinopathies and that these disorders are infrequent but important causes of hemolytic anemia in Hispanic patients.

KW - Aplastic anemia

KW - Hb Evans

KW - Unstable hemoglobin (Hb)

UR - http://www.scopus.com/inward/record.url?scp=36248943660&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=36248943660&partnerID=8YFLogxK

U2 - 10.1080/03630260701590301

DO - 10.1080/03630260701590301

M3 - Article

C2 - 17994374

AN - SCOPUS:36248943660

VL - 31

SP - 409

EP - 416

JO - Hemoglobin

JF - Hemoglobin

SN - 0363-0269

IS - 4

ER -