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Non-deletional haemoglobin H (Hb H) disease morphologically masquerading as congenital dyserythropoietic anaemia type II: a diagnostic pitfall
  1. Manu Jamwal1,
  2. Sreejesh Sreedharanunni1,
  3. Ravina Taak1,
  4. Namrata Singh1,
  5. Sanjeev Chhabra1,
  6. Jasbir Kaur1,
  7. Shilpa Amatya2,
  8. Prashant Sharma1,
  9. Amita Trehan2,
  10. Reena Das1
  1. 1 Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
  2. 2 Pediatrics Hematology-Oncology Unit, Advanced Paediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India
  1. Correspondence to Dr Sreejesh Sreedharanunni, Hematology, PGIMER, Chandigarh, Punjab 160 012, India; dr.s.sreejesh{at}

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Haemoglobin H (Hb H) disease is a form of alpha (α)-thalassaemia where three of the four α-globin gene alleles are deleted. Hb H is usually classified as deletional and non-deletional types; however, the interaction of these two types is also encountered. Clinically, the patients can have a phenotype of thalassaemia intermedia requiring occasional blood transfusion to mild anaemia. Deletional form of Hb H (--/-α) due to double heterozygosity of deletions causing α0-thalassaemia (both α-globin HBA1 and HBA2 gene deleted on the allele) and α+-thalassaemia (single α-globin gene deletion on the other allele) are commonly encountered.1 Non-deletional Hb H variants are Hb Constant Spring, Hb Quong Sze, Hb Sallanches, Hb Seal Rock, Hb Sun Prairie, Poly A; AATAAA→AATA-- of the HBA2 gene, etc.2 Congenital dyserythropoietic anaemia (CDA) is characterised by ineffective erythropoiesis and dyserythropoiesis in the bone marrow (BM), and CDA type II is the most common form. Clinical presentation of patients with CDA type II is highly heterogeneous, ranging from symptomless to transfusion-dependent anaemia. The BM has evident erythroid hyperplasia with the classical presence of binucleate erythroblasts.3 The phenotypic presentation of Hb H disease/α-thalassaemia and CDA type II is similar and often presents with anaemia, pallor, jaundice, splenomegaly, etc. We here report an interesting case of Hb H disease masquerading as CDA type II based on the findings of BM morphology.

A male child in his middle childhood from East India presented to our centre having progressive pallor since 2020. On …

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  • Handling editor Vikram Deshpande.

  • Contributors MJ wrote the manuscript. SC, PS performed Hb HPLC. MJ, RT, NS, JH and RD were involved in molecular diagnosis. PS provided clinical and follow-up data. SS reviewed the manuscript and gave final approval for the manuscript. All authors agreed to the content of the manuscript and its interpretations.

  • Funding This study was funded by Department of Biotechnology, Ministry of Science and Technology, India (BT/PR12682/MED/12/689/2015).

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.