G6PD deficiency with hemolytic anemia due to a rare gene deletion - A report of the first case in Malaysia

O. Ainoon, N. Y. Boo, Y. H. Yu, S. K. Cheong, Noor Hamidah Hussin

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

A 2-year-old Chinese boy was referred to Hospital UKM for investigation of recurrent episodes of dark-coloured urine and pallor since birth. He was born prematurely at 34 weeks gestation and developed severe early-onset neonatal jaundice requiring exchange blood transfusion. Screening at birth showed Glucose-6-phosphate dehydrogenase (G6PD) deficiency. On admission, physical examination revealed pallor, jaundice and mild hepatomegaly. Results of laboratory investigations showed a hemoglobin level of 11.0g/dl with a hemolytic blood picture, reticulocytosis of 20% and red cell G6PD activity reported as undetectable. The patient's DNA was analysed for G6PD mutations by PCR-based techniques and DNA sequencing and results showed a 24 bp deletion of nucleotide 953-976 in the exon 9 of the G6PD gene. DNA analysis was also performed on blood samples of the patient's mother and female sibling confirming their heterozygous status, although both showed normal red cell G6PD activity levels. The patient was discharged well and his parents were appropriately advised on the condition and the importance of taking folic acid regularly. This is a first case report in Malaysia of G6PD deficiency causing chronic-hemolytic anemia. The rare 24 bp deletion causes the G6PD Nara variant, previously reported only in two other unrelated males, a Japanese and a Portuguese both with chronic hemolytic anemia.

Original languageEnglish
Pages (from-to)113-118
Number of pages6
JournalHematology
Volume11
Issue number2
DOIs
Publication statusPublished - Apr 2006

Fingerprint

Glucosephosphate Dehydrogenase Deficiency
Glucosephosphate Dehydrogenase
Hemolytic Anemia
Malaysia
Gene Deletion
Pallor
Reticulocytosis
Parturition
Neonatal Jaundice
Hepatomegaly
DNA
Jaundice
DNA Sequence Analysis
Folic Acid
Blood Transfusion
Physical Examination
Siblings
Exons
Hemoglobins
Nucleotides

Keywords

  • Chronic hemolytic anemia
  • Early onset jaundice
  • Gene deletion
  • Severe G6PD deficiency

ASJC Scopus subject areas

  • Hematology

Cite this

G6PD deficiency with hemolytic anemia due to a rare gene deletion - A report of the first case in Malaysia. / Ainoon, O.; Boo, N. Y.; Yu, Y. H.; Cheong, S. K.; Hussin, Noor Hamidah.

In: Hematology, Vol. 11, No. 2, 04.2006, p. 113-118.

Research output: Contribution to journalArticle

Ainoon, O. ; Boo, N. Y. ; Yu, Y. H. ; Cheong, S. K. ; Hussin, Noor Hamidah. / G6PD deficiency with hemolytic anemia due to a rare gene deletion - A report of the first case in Malaysia. In: Hematology. 2006 ; Vol. 11, No. 2. pp. 113-118.
@article{ebde01c78f064bcdb39f916e23680b46,
title = "G6PD deficiency with hemolytic anemia due to a rare gene deletion - A report of the first case in Malaysia",
abstract = "A 2-year-old Chinese boy was referred to Hospital UKM for investigation of recurrent episodes of dark-coloured urine and pallor since birth. He was born prematurely at 34 weeks gestation and developed severe early-onset neonatal jaundice requiring exchange blood transfusion. Screening at birth showed Glucose-6-phosphate dehydrogenase (G6PD) deficiency. On admission, physical examination revealed pallor, jaundice and mild hepatomegaly. Results of laboratory investigations showed a hemoglobin level of 11.0g/dl with a hemolytic blood picture, reticulocytosis of 20{\%} and red cell G6PD activity reported as undetectable. The patient's DNA was analysed for G6PD mutations by PCR-based techniques and DNA sequencing and results showed a 24 bp deletion of nucleotide 953-976 in the exon 9 of the G6PD gene. DNA analysis was also performed on blood samples of the patient's mother and female sibling confirming their heterozygous status, although both showed normal red cell G6PD activity levels. The patient was discharged well and his parents were appropriately advised on the condition and the importance of taking folic acid regularly. This is a first case report in Malaysia of G6PD deficiency causing chronic-hemolytic anemia. The rare 24 bp deletion causes the G6PD Nara variant, previously reported only in two other unrelated males, a Japanese and a Portuguese both with chronic hemolytic anemia.",
keywords = "Chronic hemolytic anemia, Early onset jaundice, Gene deletion, Severe G6PD deficiency",
author = "O. Ainoon and Boo, {N. Y.} and Yu, {Y. H.} and Cheong, {S. K.} and Hussin, {Noor Hamidah}",
year = "2006",
month = "4",
doi = "10.1080/10245330500155184",
language = "English",
volume = "11",
pages = "113--118",
journal = "Hematology",
issn = "1024-5332",
publisher = "Taylor and Francis Ltd.",
number = "2",

}

TY - JOUR

T1 - G6PD deficiency with hemolytic anemia due to a rare gene deletion - A report of the first case in Malaysia

AU - Ainoon, O.

AU - Boo, N. Y.

AU - Yu, Y. H.

AU - Cheong, S. K.

AU - Hussin, Noor Hamidah

PY - 2006/4

Y1 - 2006/4

N2 - A 2-year-old Chinese boy was referred to Hospital UKM for investigation of recurrent episodes of dark-coloured urine and pallor since birth. He was born prematurely at 34 weeks gestation and developed severe early-onset neonatal jaundice requiring exchange blood transfusion. Screening at birth showed Glucose-6-phosphate dehydrogenase (G6PD) deficiency. On admission, physical examination revealed pallor, jaundice and mild hepatomegaly. Results of laboratory investigations showed a hemoglobin level of 11.0g/dl with a hemolytic blood picture, reticulocytosis of 20% and red cell G6PD activity reported as undetectable. The patient's DNA was analysed for G6PD mutations by PCR-based techniques and DNA sequencing and results showed a 24 bp deletion of nucleotide 953-976 in the exon 9 of the G6PD gene. DNA analysis was also performed on blood samples of the patient's mother and female sibling confirming their heterozygous status, although both showed normal red cell G6PD activity levels. The patient was discharged well and his parents were appropriately advised on the condition and the importance of taking folic acid regularly. This is a first case report in Malaysia of G6PD deficiency causing chronic-hemolytic anemia. The rare 24 bp deletion causes the G6PD Nara variant, previously reported only in two other unrelated males, a Japanese and a Portuguese both with chronic hemolytic anemia.

AB - A 2-year-old Chinese boy was referred to Hospital UKM for investigation of recurrent episodes of dark-coloured urine and pallor since birth. He was born prematurely at 34 weeks gestation and developed severe early-onset neonatal jaundice requiring exchange blood transfusion. Screening at birth showed Glucose-6-phosphate dehydrogenase (G6PD) deficiency. On admission, physical examination revealed pallor, jaundice and mild hepatomegaly. Results of laboratory investigations showed a hemoglobin level of 11.0g/dl with a hemolytic blood picture, reticulocytosis of 20% and red cell G6PD activity reported as undetectable. The patient's DNA was analysed for G6PD mutations by PCR-based techniques and DNA sequencing and results showed a 24 bp deletion of nucleotide 953-976 in the exon 9 of the G6PD gene. DNA analysis was also performed on blood samples of the patient's mother and female sibling confirming their heterozygous status, although both showed normal red cell G6PD activity levels. The patient was discharged well and his parents were appropriately advised on the condition and the importance of taking folic acid regularly. This is a first case report in Malaysia of G6PD deficiency causing chronic-hemolytic anemia. The rare 24 bp deletion causes the G6PD Nara variant, previously reported only in two other unrelated males, a Japanese and a Portuguese both with chronic hemolytic anemia.

KW - Chronic hemolytic anemia

KW - Early onset jaundice

KW - Gene deletion

KW - Severe G6PD deficiency

UR - http://www.scopus.com/inward/record.url?scp=33744945545&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33744945545&partnerID=8YFLogxK

U2 - 10.1080/10245330500155184

DO - 10.1080/10245330500155184

M3 - Article

VL - 11

SP - 113

EP - 118

JO - Hematology

JF - Hematology

SN - 1024-5332

IS - 2

ER -