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Two α1-Globin Gene Point Mutations Causing Severe Hb H Disease.

Hua Jiang1, Lv-Yin Huang2, Li Zhen2

  • 1a Department of Hematology/Oncology , Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University , Guangzhou , Guangdong Province , People's Republic of China.

Hemoglobin
|November 9, 2017
PubMed
Summary

Two rare alpha-globin gene mutations, Hb Zürich-Albisrieden and Hb Sichuan, cause severe transfusion-dependent alpha-thalassemia (α-thal). Early detection of carriers is crucial, especially for couples with known alpha-thalassemia carriers.

Keywords:
HBA1Hb SichuanHb Zürich-Albisriedentransfusion-dependent Hb H disease

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Area of Science:

  • Genetics
  • Hematology

Background:

  • Alpha-thalassemia (α-thal) is typically moderate, but severe forms exist.
  • Severe α-thal often necessitates regular blood transfusions.

Observation:

  • Two Chinese families with transfusion-dependent Hb H disease were studied.
  • Rare mutations in the α-globin genes (HBA1, HBA2) were investigated.

Findings:

  • Hb Zürich-Albisrieden mutation in HBA1, combined with the Southeast Asian deletion (- -SEA), caused severe α-thal.
  • A novel variant, Hb Sichuan (HBA1: c.393_394insT), also led to severe α-thal when associated with the - -SEA deletion.

Implications:

  • These HBA1 mutations can result in continuous blood transfusion-dependent α-thal.
  • Carrier detection is vital, particularly for couples with a known α0-thal carrier partner.