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

Abstract 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.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title medicine
Publication Year Start




PMID- 29382003
OWN - NLM
STAT- MEDLINE
DCOM- 20180209
LR  - 20180209
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 96
IP  - 47
DP  - 2017 Nov
TI  - Hemoglobin Hornchurch [beta43 (CD2) Glu > Lys; HBB: c.130G > A] in a Chinese boy 
      complicated with thrombocytopenia: A case report and literature review.
PG  - e8862
LID - 10.1097/MD.0000000000008862 [doi]
AB  - 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.
CI  - Copyright (c) 2017 The Authors. Published by Wolters Kluwer Health, Inc. All
      rights reserved.
FAU - Shi, Huiping
AU  - Shi H
AD  - MOH Key Lab of Thrombosis and Hemostasis, Jiangsu Institute of Hematology, the
      First Affiliated Hospital of Soochow University.
AD  - Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China.
FAU - Wang, Zhaoyue
AU  - Wang Z
AD  - MOH Key Lab of Thrombosis and Hemostasis, Jiangsu Institute of Hematology, the
      First Affiliated Hospital of Soochow University.
AD  - Collaborative Innovation Center of Hematology, Soochow University, Suzhou, China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 0 (Hemoglobins, Abnormal)
RN  - 0 (hemoglobin Hornchurch)
SB  - AIM
SB  - IM
MH  - Adolescent
MH  - Anemia, Aplastic/diagnosis
MH  - Hemoglobinopathies/*blood/*complications
MH  - Hemoglobins, Abnormal/*analysis
MH  - Humans
MH  - Male
MH  - Myelodysplastic Syndromes/diagnosis
MH  - Thrombocytopenia/diagnosis/*etiology
PMC - PMC5709002
EDAT- 2018/02/01 06:00
MHDA- 2018/02/10 06:00
CRDT- 2018/02/01 06:00
PHST- 2018/02/01 06:00 [entrez]
PHST- 2018/02/01 06:00 [pubmed]
PHST- 2018/02/10 06:00 [medline]
AID - 10.1097/MD.0000000000008862 [doi]
AID - 00005792-201711270-00094 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2017 Nov;96(47):e8862. doi: 10.1097/MD.0000000000008862.