Non-deletional haemoglobin H (Hb H) disease morphologically masquerading as congenital dyserythropoietic anaemia type II: a diagnostic pitfall-Reference-Cited by-同舟云学术

Non-deletional haemoglobin H (Hb H) disease morphologically masquerading as congenital dyserythropoietic anaemia type II: a diagnostic pitfall

Published:2023-12-20 Issue: Volume: Page:jcp-2023-209179
ISSN:0021-9746
Container-title:Journal of Clinical Pathology
language:en
Short-container-title:J Clin Pathol

Author:

Jamwal Manu^ORCID,Sreedharanunni Sreejesh^ORCID,Taak Ravina,Singh Namrata,Chhabra Sanjeev,Kaur Jasbir,Amatya Shilpa,Sharma Prashant,Trehan Amita,Das Reena^ORCID

Funder

Department of Biotechnology, Ministry of Science and Technology, India

Publisher

BMJ

Subject

General Medicine,Pathology and Forensic Medicine

Reference7 articles.

1. The clinical phenotypes of alpha thalassemia;Lal;Hematol Oncol Clin North Am,2023

2. Das R , Fisher C , Kaur J , et al . Wide spectrum of molecular and clinical heterogeneity in Hbh disease in North Indian patients. Blood 2014;124:1358. doi:10.1182/blood.V124.21.1358.1358

3. The congenital dyserythropoieitic anemias: genetics and pathophysiology;King;Curr Opin Hematol,2022

4. First case of a compound heterozygosity for two nondeletional a-thalassemia mutations, HB constant spring and HB quong sze;Zhou;Hemoglobin,2016

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Congenital dyserythropoietic anemia type II and ineffective erythropoiesis: challenges in diagnosis and management;Frontiers in Hematology;2024-07-05

2. A case of congenital dyserythropoietic anemia masked by hemoglobin H disease;Mediterranean Journal of Hematology and Infectious Diseases;2024-06-29