Hereditary spherocytosis classification

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:

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Classification

SPH1	ANK1	Ankyrin-1	AD	Mild -moderate
			AR	Moderately severe -severe	Often transfusion dependent
SPH2	SPTB	Spectrin beta chain, erythrocytic	AD	Mild -moderate
			AR	Severe	1 fatal infantile case described
SPH3	SPTA1	Spectrin alpha chain, erythrocytic 1	AR	Severe	Transfusion dependent
SPH4	SLC4A1	Band 3 (anion transport protein)	AD	Mild -moderate	Certain SLC4A1 pathogenic variants cause disease only when biallelic.
SPH5	EPB42	Protein 4.2 2	AR	Mild -moderate 3	1 moderately severe case described

• HS also classified on basis of severity as mentioned on the below table.

Severity	Hgb (g/dL)	Reticulocytes (%)	Splenectomy
Mild	11-15	3-8	Not necessary
Moderate	8-11.5	>8	Consider if activity level & quality of life are decreased
Moderately severe	6-8	≥10	Indicated at age >5 yrs
Severe	<6	≥10	Indicated at age >3 yrs
Normal 1	11.7-15.7 (adult females) 13.3-17.7 (adult males)	0.5-1.5 2