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Review
. 2017 Nov;96(47):e8862.
doi: 10.1097/MD.0000000000008862.

Hemoglobin Hornchurch [β43 (CD2) Glu > Lys; HBB: c.130G > A] in a Chinese boy complicated with thrombocytopenia: A case report and literature review

Huiping Shi  1 , Zhaoyue Wang
Affiliations
Review

Hemoglobin Hornchurch [β43 (CD2) Glu > Lys; HBB: c.130G > A] in a Chinese boy complicated with thrombocytopenia: A case report and literature review

Huiping Shi et al. Medicine (Baltimore). 2017 Nov.

Abstract

Rationale: Hemoglobin Hornchurch is regarded as an asymptomatic hemoglobinopathy with no obvious hematological or clinical abnormalities. Recently, we identified hemoglobin Hornchurch in a 13-year-old Chinese boy complicated with thrombocytopenia, which displayed instability in isopropanol precipitation test.

Patient concerns: In this case report, we reported a Chinese boy with hemoglobin Hornchurch complicated by thrombocytopenia. The patients have been misdiagnosed as aplastic anemia and myelodysplastic syndrome before.

Diagnoses: Hemolysis tests, high-performance liquid chromatography, and HBB gene sequencing identified the E44K (G>A) mutation. Isopropanol precipitation test showed instability in hemoglobin Hornchurch.

Interventions: The patient was given immunosuppressive therapy for 3 months.

Outcomes: His general conditions have improved along with the recovery of the hemogram index.

Lessons: Further research is needed to clarify the relation between structural abnormality and functional properties of hemoglobin Hornchurch. This second case of hemoglobin Hornchurch indicates that there might be more hemoglobin variants or their carriers in the Chinese population.

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Conflict of interest statement

The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

Figure 1
Figure 1
Sequence analysis of the HBB gene identifying the heterozygous G>A mutation at codon 43, corresponding to the Glu→Lys substitution of Hb Hornchurch in the patient.
See this image and copyright information in PMC

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