exudates and Anemia--Hemolytic

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 11.0 g/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.

Topics: Anemia, Hemolytic; Anemia, Hemolytic, Congenital Nonspherocytic; Child, Preschool; Chronic Disease; Gene Deletion; Glucosephosphate Dehydrogenase; Glucosephosphate Dehydrogenase Deficiency; Humans; Malaysia; Male; Sequence Analysis, DNA

Topics: Adult; Aging; Ampicillin; Anaphylaxis; Anemia, Hemolytic; Anemia, Sickle Cell; Drug Eruptions; Drug Hypersensitivity; Epinephrine; Humans; Malaysia; Male; Nephritis, Interstitial; Penicillins; Skin Tests

Topics: Adolescent; Adult; Anemia, Hemolytic; Asian People; Blood Protein Electrophoresis; Child; Chromatography, DEAE-Cellulose; Female; Genes; Hemoglobinopathies; Hemoglobins, Abnormal; Humans; Inclusion Bodies; Infant; Iron; Malaysia; Male; Molecular Biology; Protein Denaturation; Thalassemia; Umbilical Cord

Topics: Anemia; Anemia, Hemolytic; Anemia, Hemolytic, Autoimmune; Asian People; Autoantibodies; Autoimmune Diseases; Blood Transfusion; Child; Cold Temperature; Coombs Test; Hemagglutination; Humans; Malaysia; Prednisolone

Topics: Anemia; Anemia, Hemolytic; Biomedical Research; Genetics; Glucosephosphate Dehydrogenase Deficiency; Glucosephosphates; Hemoglobinuria; Leprosy; Malaysia; Pharmacology; Sulfones

Topics: Anemia; Anemia, Hemolytic; Anemia, Hypochromic; Anemia, Macrocytic; Ethnology; Female; Humans; Infant; Infant, Newborn; Iron; Leukemia; Malaysia; Postpartum Period