A Coincidental Discovery of a New Stable Variant (Hb Hachioji or HBB: c.187CT) in a Patient with Chronic Hemolytic Anemia of Unexplained Origin
| Autor: | Ferania Mella, Tatehiko Tanaka, Yasuhiro Yamashiro, Masafumi Kimoto, Takenori Nitta, Chris Adhiyanto, Yuki Amao |
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| Rok vydání: | 2018 |
| Předmět: |
Proband
Hemolytic anemia Adult Male Anemia Hemolytic Heterozygote Hemoglobins Abnormal Clinical Biochemistry Mutation Missense beta-Globins Asymptomatic Polymorphism Single Nucleotide Hereditary spherocytosis 03 medical and health sciences 0302 clinical medicine Valine Medicine Humans Genetics (clinical) business.industry Biochemistry (medical) Hematology medicine.disease Molecular biology Abnormal hemoglobin Phenotype 030220 oncology & carcinogenesis Chronic Disease Hemoglobin medicine.symptom business 030215 immunology Heinz body |
| Zdroj: | Hemoglobin. 42(1) |
| ISSN: | 1532-432X |
| Popis: | We report a new hemoglobin (Hb) variant, Hb Hachioji (HBB: c.187C>T), which was detected in a 32-year-old male with hemolytic anemia. The proband had undergone splenectomy in his childhood after being diagnosed with hereditary spherocytosis (HS) with no clinical improvement. A recent study showed that Heinz bodies were frequently observed in his red cells, however, no abnormal band was separated by isoelectric focusing (IEF), and the isopropanol (instability) test was negative. Direct sequencing revealed that the proband was a heterozygous carrier of a novel mutation (GCT>GTT) at codon 62 of the β-globin gene, leading to an alanine to valine substitution. This variant was named Hb Hachioji. Characterization at the mRNA level by cDNA sequencing detected βHachioji mRNA, as well as βA mRNA. Subsequently, study of the proband's family indicated that his father was a carrier of this Hb variant, although unexpectedly, the father was asymptomatic and clinically healthy. Oxygen affinity measurement of total Hb showed no alteration in the P50 and oxygen equilibrium curve. The presence of Hb Hachioji was confirmed by mass spectrometry (MS). Hb Hachioji comprised approximately 50.0% of the total Hb and was a stable variant. The phenotypic discrepancy between these two carriers suggests that Hb Hachioji may not be associated with the hemolytic involvement in the proband. P4.2Nippon, which is the primary cause of most cases of Japanese HS, was absent in the proband's parents. The coexistence of glucose-6-phosphate dehydrogenase (G6PD) deficiency was ruled out. Thus, the cause of hemolytic involvement in this patient remains unclear. |
| Databáze: | OpenAIRE |
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