A Coincidental Discovery of a New Stable Variant (Hb Hachioji or HBB: c.187C>T) in a Patient with Chronic Hemolytic Anemia of Unexplained Origin.

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 new Krüppel-like factor 1 mutation (c.947G > A or p.C316Y) in humans causes β-thalassemia minor.

Here we describe a Japanese patient with mild β-thalassemia (β-thal) with an intact β-globin gene but a new missense mutation of c.947G > A or p.C316Y in the erythroid Krüppel-Like Factor (KLF1) gene which is strongly associated with the expression of the β-globin gene.

The interference by HbF on HbA1c (BM Test HbA1c) measurement in enzymatic method.

Background: High performance liquid chromatography and immunological and enzymatic methods are known as the methods for HbA1c measurement. However, the differences in the principles of the methods may cause slight discrepancies, which become problems especially in the regions where hemoglobinopathies that have high HbF concentrations are commonly seen. In this report, we discuss the effect of HbF on the HbA1c measurement by the enzymatic method (BM Test HbA1c) which can be applied to automatic analyzer of high sample throughput.

Oxidation status of β-thalassemia minor and Hb H disease, and its association with glycerol lysis time (GLT50).

β-Thalassemia (β-thal), especially β-thalassemia major (β-TM), is reported to be related to reactive oxygen species (ROS) and enhanced oxidation status. It is reflected by increased malondialdehyde (MDA), by membrane lipid peroxidation and decreased by the newly developed total antioxidant capacity (TAC). However, there is less evidence for β-thal minor and Hb H (β4) disease on its association with oxidation status.

A new β(0)-thalassemia mutation (codon 102, AAC>ATCAC) in coexistence with a heterozygous P4.2 Nippon gene.

A new β-thalassemia (β-thal) frameshift mutation was found at codon 102 (AAC>ATCAC) in a 17-year-old Japanese male and his 14-year-old sister. Both demonstrated a more severe phenotype than the usual β-thal minor with mild hemolytic involvement. No mRNA derived from the thalassemic allele, or β(T)mRNA, was detected in the sequencing analysis of the whole mRNA (cDNA).

[Establishment of multiplex hybri-probe method--analysis using the polymorphism of UGT1A1 gene].

There are a number of methods for gene analysis of a point mutation and deletion/insertion of several nucleotides. In 2011, we reported an improved hybridization probe methods (Hybri-Probe method) that are highly sensitive and accurate, and excellent in cost and time effectiveness. Here, we have developed the Multiplex Hybri Probe method for several types of mutations or polymorphisms including the microsatellite polymorphisms, especially of palindromic sequence such as (TA)n and (GC)n.

The +1,506 (A>C) mutation in the 3' untranslated region affects β-globin expression.

The 3' untranslated region (3'UTR) is known to be important to mRNA stability but the stabilization mechanism on the β-globin gene is not fully elucidated. We speculated in our previous report that +1,506 (A>C) mutation (HGVS nomenclature: *32A>C) on the β-globin 3'UTR causes β-thalassemia (β-thal) in order to destabilize the mRNA. To investigate further, we studied the expression efficiency for the mutation with a luciferase assay.

Identification of a novel mutation in the β-globin gene 3' untranslated region [+1,506 (A>C)] in a Japanese male with a heterozygous β-thalassemia phenotype.

β-Thalassemia (β-thal) is characterized by the absent or reduced production of β-globin chains. The precise molecular lesion that causes decreased β-globin synthesis in β(+)-thal is difficult to predict when mutations occur in the locus control region (LCR), the promoter, the introns or 3' untranslated regions (3'UTRs). Among them, the role of the 3'UTR of β-globin gene in mRNA stability is poorly understood, mainly due to very few cases that have mutations in this region.

Internet-based approach to population screening for common hemoglobinopathies in United Arab Emirates.

This article reports on efforts to overcome common hurdles that were faced during population-based screening for common hemoglobinopathies in the United Arab Emirates. An Internet-based approach was designed and implemented to increase the acceptance of the screening program. The process involved: an awareness campaign, a simple bilingual (Arabic/English) online consent form and registration process, the use of a barcode for sample labeling, an equipment upgrade, electronic communication of a successful registration process, test results, and a counseling process.