Spontaneous mutation of hemoglobin Lufkin in a white boy.

Abstract

A 10-year-old white boy presented clinically with thalassemia major facies, pallor, jaundice, and hepatomegaly. Investigation revealed the patient has hemoglobin (Hb) Lufkin concurrent with beta(0) thalassemia. DNA sequencing of the beta globin gene confirmed a GGC to a GAC mutation at codon 29 (gly to asp) for Hb Lufkin on the patient and also revealed a beta(0) thalassemia mutation, IVS-1-1 (G to A), on both the patient and his mother. Both parents lack the Hb Lufkin mutation. Molecular studies, human leukocyte antigen, and red blood cells phenotypic studies indicate spontaneous mutation of Hb Lufkin in this patient.

• Authors: Peihong Hsu, Ding Wen Wu, Ahna M Blutreich, Paul J Kurtin, James D Hoyer, Gungor Karayalcin
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 31 Issue 4 Pg. 281-4 (Apr 2009) ISSN: 1536-3678 [Electronic] United States
• PMID: 19346882 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Lufkin

Topics

• Child
• Erythrocyte Indices
• Exons (genetics)
• Family Health
• Haplotypes
• Hemoglobins, Abnormal (genetics, metabolism)
• Histocompatibility Testing
• Humans
• Male
• Phenotype
• Point Mutation
• White People (genetics)
• beta-Thalassemia (blood, ethnology, genetics)