A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2

C179G>A (or HBA1); P.Gly60Asp] with other α-thalassemias in malay families

Hafiza Alauddin, Noor Adilah Jaapar, Raja Zahratul Azma Raja Sabudin, Azlin Ithnin, Noor Farisah A Razak, C-Khai Loh, Hamidah Alias, Zarina Abdul Latiff, Ainoon Othman

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] is a rare hemoglobin (Hb) variant due to a mutation at codon 59 of the α2- or α1-globin gene resulting in a glycine to aspartic acid substitution. Two siblings with a unique coinheritance of Hb Adana and Hb Constant Spring (Hb CS, α142, Term→Gln, TAA>CAA; HBA2: c.427 T>C) (α codon 59α/αCSα), were compared phenotypically with another two siblings carrying the Hb Adana mutation and a 3.7 kb deletion (αcodon 59α/-α3.7). Although they all had α-thalassemia intermedia (α-TI), the former were clinically more severe than the latter. The first pair of siblings presented at a much younger age than the second pair and showed lower Hb levels and significant extramedullay hemopoiesis. Another case of a hydropic fetus as a result of Hb H/Hb Adana is also described. Their clinical phenotypes and hematological parameters are all presented for comparison.

Original languageEnglish
Pages (from-to)277-281
Number of pages5
JournalHemoglobin
Volume38
Issue number4
DOIs
Publication statusPublished - 2014

Fingerprint

Thalassemia
beta-Thalassemia
Codon
Hemoglobins
Hemoglobin H
Mutation
Globins
Aspartic Acid
Glycine
Edema
Fetus
Substitution reactions
Genes
Phenotype
hemoglobin Adana

Keywords

  • Codon 59 mutation
  • Hb Adana
  • Hb Constant Spring (Hb CS)

ASJC Scopus subject areas

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

Cite this

@article{8a1209f16ea04fa3853e1787954044d0,
title = "A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2: C179G>A (or HBA1); P.Gly60Asp] with other α-thalassemias in malay families",
abstract = "Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] is a rare hemoglobin (Hb) variant due to a mutation at codon 59 of the α2- or α1-globin gene resulting in a glycine to aspartic acid substitution. Two siblings with a unique coinheritance of Hb Adana and Hb Constant Spring (Hb CS, α142, Term→Gln, TAA>CAA; HBA2: c.427 T>C) (α codon 59α/αCSα), were compared phenotypically with another two siblings carrying the Hb Adana mutation and a 3.7 kb deletion (αcodon 59α/-α3.7). Although they all had α-thalassemia intermedia (α-TI), the former were clinically more severe than the latter. The first pair of siblings presented at a much younger age than the second pair and showed lower Hb levels and significant extramedullay hemopoiesis. Another case of a hydropic fetus as a result of Hb H/Hb Adana is also described. Their clinical phenotypes and hematological parameters are all presented for comparison.",
keywords = "Codon 59 mutation, Hb Adana, Hb Constant Spring (Hb CS)",
author = "Hafiza Alauddin and Jaapar, {Noor Adilah} and {Raja Sabudin}, {Raja Zahratul Azma} and Azlin Ithnin and Razak, {Noor Farisah A} and C-Khai Loh and Hamidah Alias and {Abdul Latiff}, Zarina and Ainoon Othman",
year = "2014",
doi = "10.3109/03630269.2014.916720",
language = "English",
volume = "38",
pages = "277--281",
journal = "Hemoglobin",
issn = "0363-0269",
publisher = "Informa Healthcare",
number = "4",

}

TY - JOUR

T1 - A case series of α-thalassemia intermedia due to compound heterozygosity for Hb Adana [HBA2

T2 - C179G>A (or HBA1); P.Gly60Asp] with other α-thalassemias in malay families

AU - Alauddin, Hafiza

AU - Jaapar, Noor Adilah

AU - Raja Sabudin, Raja Zahratul Azma

AU - Ithnin, Azlin

AU - Razak, Noor Farisah A

AU - Loh, C-Khai

AU - Alias, Hamidah

AU - Abdul Latiff, Zarina

AU - Othman, Ainoon

PY - 2014

Y1 - 2014

N2 - Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] is a rare hemoglobin (Hb) variant due to a mutation at codon 59 of the α2- or α1-globin gene resulting in a glycine to aspartic acid substitution. Two siblings with a unique coinheritance of Hb Adana and Hb Constant Spring (Hb CS, α142, Term→Gln, TAA>CAA; HBA2: c.427 T>C) (α codon 59α/αCSα), were compared phenotypically with another two siblings carrying the Hb Adana mutation and a 3.7 kb deletion (αcodon 59α/-α3.7). Although they all had α-thalassemia intermedia (α-TI), the former were clinically more severe than the latter. The first pair of siblings presented at a much younger age than the second pair and showed lower Hb levels and significant extramedullay hemopoiesis. Another case of a hydropic fetus as a result of Hb H/Hb Adana is also described. Their clinical phenotypes and hematological parameters are all presented for comparison.

AB - Hb Adana [HBA2: c179G>A (or HBA1); p.Gly60Asp] is a rare hemoglobin (Hb) variant due to a mutation at codon 59 of the α2- or α1-globin gene resulting in a glycine to aspartic acid substitution. Two siblings with a unique coinheritance of Hb Adana and Hb Constant Spring (Hb CS, α142, Term→Gln, TAA>CAA; HBA2: c.427 T>C) (α codon 59α/αCSα), were compared phenotypically with another two siblings carrying the Hb Adana mutation and a 3.7 kb deletion (αcodon 59α/-α3.7). Although they all had α-thalassemia intermedia (α-TI), the former were clinically more severe than the latter. The first pair of siblings presented at a much younger age than the second pair and showed lower Hb levels and significant extramedullay hemopoiesis. Another case of a hydropic fetus as a result of Hb H/Hb Adana is also described. Their clinical phenotypes and hematological parameters are all presented for comparison.

KW - Codon 59 mutation

KW - Hb Adana

KW - Hb Constant Spring (Hb CS)

UR - http://www.scopus.com/inward/record.url?scp=84904285173&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84904285173&partnerID=8YFLogxK

U2 - 10.3109/03630269.2014.916720

DO - 10.3109/03630269.2014.916720

M3 - Article

VL - 38

SP - 277

EP - 281

JO - Hemoglobin

JF - Hemoglobin

SN - 0363-0269

IS - 4

ER -