Hereditary spherocytosis classification

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Overview

The hereditary spherocytosis classified into 05 subtypes on the basis of underlying protein defect including; ankyrin 1, spectrin beta chain (erythrocytic), spectrin alpha chain (erythrocytic 1), band 3 and protein 4.2. It is also classified on the basis of clinical severity into mild, moderate and severe subtypes.

Hereditary spherocytosis is classified on basis of underlying defect in protein and also on the basis of severity of hemolysis.

Classification of hereditary spherocytosis on the basis of underlying protein defect


Locus	Gene	Protein	Inheritance	Severity	Comment
SPH1	ANK1	Ankyrin-1	AD/AR	mild-moderate/moderately severe-severe	often transfusion dependant
SPH2	SPTB	Spectrin beta chain,erythrocytic	AD/AR	mild-moderate/severe	1 fatal infantile case described
SPH3	SPTA1	Spectrin alpha chain,erythrocytic1	AR	severe	transfusion dependant
SPH4	SLC4A1	Band3(anion transport protein)	AD	mild-moderate	certain SLC4A1 variants cause disease only when biallelic
SPH5	EPB42	Protein 4.2	AR	mild-moderate	1 moderately severe case described


Classification	Mild	Moderate	Severe
Hemoglobin (g/dl)	110-150	80-120	60-80
Reticulocyte count (%)	3-6	>6	>10
Bilirubin (ug/l)	17-34	>34	>51
Splenectomy	usually not required	indicated during school age, usually before puberty	necessary – delay until 6 years of age if possible

↑ Bolton-Maggs, P H B (2004). “Hereditary spherocytosis; new guidelines”. Archives of Disease in Childhood. 89 (9): 809–812. doi:10.1136/adc.2003.034587. ISSN 0003-9888.
↑ Duboucher C, Milhau S, Bouissou H (1987). “Isolated amyloidosis of the atrioventricular valves. A study of one case, curiously associated with diffuse storage of plant wax paraffin”. Virchows Arch A Pathol Anat Histopathol. 410 (6): 541–5. PMID 3105174.
↑ Beauchamp-Nicoud A, Morle L, Lutz HU, Stammler P, Agulles O, Petermann-Khder R; et al. (2000). “Heavy transfusions and presence of an anti-protein 4.2 antibody in 4. 2(-) hereditary spherocytosis (949delG)”. Haematologica. 85 (1): 19–24. PMID 10629586.