Journal of Shanghai Jiao Tong University (Medical Science) >

2022 , Vol. 42 >Issue 4: 551 - 556

DOI: https://doi.org/10.3969/j.issn.1674-8115.2022.04.019

Case report

Hb M-Boston: a case report and overview

  • Yefei WANG ,
  • Yuemin ZHANG ,
  • Beiying WU ,
  • Wenquan XIA
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  • 1.Faculty of Medical Laboratory Science, College of Medical Technology, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
    2.Department of Geriatrics, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
    3.Department of Clinical Laboratory, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
WANG Yefei, E-mail: yefeiwang@hotmail.com.

Received date: 2021-12-15

  Accepted date: 2022-03-22

  Online published: 2022-04-28

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Abstract

A 29-year-old male with cyanosis had low oxygen saturation (SaO2 89.3%) with normal echocardiography and chest X-ray findings. The patient's peripheral blood was analyzed by routine blood analysis and screening tests for hemolysis, and hemoglobin detection was performed by high performance liquid chromatography (HPLC). The polymerase chain reaction (PCR) and reverse dot blot (RDB) technique were used to detect 17 common β-thalassemia gene mutations and non-deletional α-thalassemia in Chinese. Gap-PCR combined with agarose gel electrophoresis was used to detect deletional α-thalassemia. PCR and DNA sequencing for α- and β-globin gene (HBA1, HBA2 and HBB) were simultaneously performed. Both of the routine blood analysis and hemolysis screening tests were with normal findings. The HPLC pattern showed a peak with 8.1% of area at 4.53 min position (S window). Gene analysis showed a heterozygous mutation of HBA2 c.175C>T, Hb M-Bostonα58 His>Tyr. Hb M is a kind of Hb with the structural variant that stabilizes heme iron in the oxidized (ferric) state. It can be confused with other causes of methemoglobinemia, like genetic alterations in methemoglobin reductase enzyme systems of red cells. The heterozygotes of Hb M-Boston with typical lifelong cyanosis and good prognosis is really unusual in Chinese population, which does not require any treatment.

Key words： Hb M-Boston; high performance liquid chromatography (HPLC); globin gene

Cite this article

Yefei WANG , Yuemin ZHANG , Beiying WU , Wenquan XIA . Hb M-Boston: a case report and overview[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2022 , 42(4) : 551 -556 . DOI: 10.3969/j.issn.1674-8115.2022.04.019

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