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

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...

Source: Journal of Clinical Pathology - March 20, 2024 Category: Pathology Authors: Jamwal, M., Sreedharanunni, S., Taak, R., Singh, N., Chhabra, S., Kaur, J., Amatya, S., Sharma, P., Trehan, A., Das, R. Tags: PostScript Source Type: research