[Hematological Analysis and Diagnosis of Two Rare Abnormal Hemoglobin].

Abstract

OBJECTIVE:

To analyze the hematological characteristics of Hb Broomhill and Hb Hornchurch, and prenatal diagnosis should be carried out in two families.

METHODS:

RBC parameters and hemoglobin electrophoretogram were analyzed on the peripheral blood of all patients, and amniotic fluid was collected for prenatal diagnosis. PCR-Flow fluorescent hybridization and Sanger sequencing were performed for gene diagnosis of thalassemia.

RESULTS:

Three cases of Hb Broomhill were detected, including 2 cases with common SEA α-thalassemia, which was characterized by hypochromic microcytic mild anemia, the capillary electrophoregram revealed a tiny shoulder peak before the Hb A peak; 1 case was diagnosed as Hb Hornchurch combined with β-thalassemia, which also showed mild anemia. Hemoglobin electrophoretogram showed an abnormal hemoglobin variant peak at Hb A2 zone.

CONCLUSION:

The carriers of Hb Broomhill and Hb Hornchurch do not have microcytic hypochromic anemia, which do not aggravate the hematological symptoms, such as anemia when being combined with thalassemia of the same type.

• Authors: Ji-Cheng Wang, Hao Guo, Hua-Jie Huang, Teng-Long Yuan, Cui-Ze Yao, Dan-Qing Qin, Li DU
• Journal: Zhongguo shi yan xue ye xue za zhi (Zhongguo Shi Yan Xue Ye Xue Za Zhi) Vol. 28 Issue 6 Pg. 2028-2032 (Dec 2020) ISSN: 1009-2137 [Print] China
• PMID: 33283737 (Publication Type: Journal Article)

Chemical References

• Hemoglobins, Abnormal

Topics

• Anemia, Hypochromic
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Humans
• alpha-Thalassemia (diagnosis, genetics)
• beta-Thalassemia