4.2 Article

Analysis of rare thalassemia caused by HS-40 regulatory site deletion

期刊

HEMATOLOGY
卷 25, 期 1, 页码 286-291

出版社

TAYLOR & FRANCIS LTD
DOI: 10.1080/16078454.2020.1799587

关键词

Thalassemia; rare type of thalassemia; Hb H; Hb Bart's fetus; HS-40; Phenotype; Family pedigree analysis; People's Republic of China

资金

  1. National Natural Science Foundation of China [81360091]
  2. Scientific Research Fund of the Health and Family Planning Commission of Guangxi Zhuang Autonomous Region [Z20170528, Z20170531]
  3. Liuzhou Science Technology Innovation Capability and Conditions Construction Project [2014G020404, 2018AF10501]

向作者/读者索取更多资源

Objectives: To investigate the effect of HS-40 regulatory site deletion on alpha-globin gene expression and its clinical significance. Methods: Venous blood samples of subjects were analyzed using a hematology analyzer and high- performance liquid chromatography; fetal cord blood was analyzed by a capillary electrophoresis analyzer. Gap-polymerase chain reaction (PCR), reverse dot blot (RDB), and multiple-link-dependent probe amplification (MLPA) were used for genotyping of thalassemia. Results: The proband was POLR3 K, HS-40 heterozygous deletion; the proband's wife was -SEA/alpha alpha; the fetus was POLR3 K, HS-40 heterozygous deletion combined with -SEA deletion; all of them had microcytic hypochromic anemia. Fetal umbilical cord blood electrophoresis revealed a suspected Hb Bart's band to be 88.4%, and the fetus was, thus, diagnosed as Hb Bart's fetus. The red blood cell parameters of the sporadic case showed that he had microcytic hypochromic anemia. Hemoglobin (Hb) electrophoresis analysis showed Hb H to be 5.3%, leading to a diagnosis of Hb H disease. Gap-PCR and RDB identified the genotype to be -alpha 3.7/alpha alpha, beta(A)/beta(A). MLPA detected heterozygous deletion or -alpha 3.7 deletion on one allele and deletion of the HS-40 regulatory site on the other allele. Conclusion: The deletion of HS-40 regulatory site reduced expression of alpha-globin. HS-40 heterozygous deletion manifested as mild anemia, which was of microcytic hypochromic type. When compounded with -alpha 3.7/alpha alpha, it manifested as Hb H disease; and when compounded with -SEA/alpha alpha, it manifested as Hb Bart's fetus.

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