Molecular Understanding of Non-Transfusion-Dependent Thalassemia Associated with Hemoglobin E-β-Thalassemia in Northeast Thailand.
Acta Haematol. 2016 Oct 7;136(4):233-239
Authors: Yamsri S, Pakdee N, Fucharoen G, Sanchaisuriya K, Fucharoen S
Non-transfusion-dependent thalassemia (NTDT) is associated with various forms of thalassemia and genetic modifiers. We report the molecular basis of NTDT in hemoglobin (Hb) E-β-thalassemia disease. This study was done in 73 adult patients encountered at the prenatal diagnosis center of Khon Kaen University, Northeast Thailand. Hematological parameters and Hb patterns were collected, and α- and β-globin gene mutations were determined. Multiple single-nucleotide polymorphisms (SNPs) including the rs7482144/Gγ-XmnI polymorphism, rs2297339, rs2838513, rs4895441, and rs9399137 in the HBS1L-MYB gene, rs4671393 and rs11886868 in the BCL11A gene, and G176AfsX179 in the KLF1 gene were examined. Five β0-thalassemia mutations and a severe β+-thalassemia mutation in trans to the βE gene were identified. No significant difference in hematological parameters was observed among β-thalassemia genotypes. Coinheritance of α-thalassemia was observed in 31 of the 73 subjects (42.5%). Four SNPs including Gγ-XmnI, rs2297339, rs4895441, and rs9399137 of HBS1L-MYB were found to be associated with high Hb F levels in 39 (53.4%) subjects. The molecular basis of NTDT in the remaining 3 (4.1%) cases could not be defined. These results indicate multiple genetic factors in NTDT patients and underline the importance of complete genotyping to provide proper management, make clinical predictions, and improve genetic counseling.
PMID: 27710960 [PubMed - as supplied by publisher]
Translocation (9;12)(q34.1;p13.3) Resulted in ETV6-ABL1 Fusion in a Patient with Philadelphia Chromosome-Negative Chronic Myelogenous Leukemia.
Acta Haematol. 2016 Oct 7;136(4):240-243
Authors: Mori N, Ohwashi-Miyazaki M, Okada M, Yoshinaga K, Shiseki M, Tanaka J
PMID: 27710957 [PubMed - as supplied by publisher]
Acquired FVIII and FIX Inhibitors after Pregnancy: A Case Report.
Acta Haematol. 2016 Oct 5;136(4):229-232
Authors: Kose M, Bakkaloglu OK, Amikishiyev S, Akpınar TS, Saracoglu B, Akcan T, Oktem M, Yenerel MN, Güler K, Tükek T
Acquired hemophilia is a relatively rare clinical presentation, and most cases present with acquired FVIII inhibitor. The co-occurrence of inhibitors to multiple coagulation factors is uncommon. These autoantibodies may induce spontaneous life-threatening bleeding in patients who have had no previous bleeding disorder. Herein, we present a patient with postpartum acquired FVIII and FIX inhibitors who developed intramuscular hematoma and hemothorax during follow-up. She was then treated with activated prothrombin complex concentrate and methylprednisolone.
PMID: 27701158 [PubMed - as supplied by publisher]