SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE

MedGen UID:: 865712
•Concept ID:: C4017275
•: Finding

OMIM®:

612641

Recent clinical studies

Etiology

A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.

Aly NH, Elalfy MS, Elhabashy SA, Mowafy NM, Russo R, Andolfo I, Iolascon A, Ragab IA
Blood Cells Mol Dis 2023 Nov;103:102779. Epub 2023 Jul 16 doi: 10.1016/j.bcmd.2023.102779. PMID: 37558589

Defects in processing and trafficking of the AE1 Cl-/HCO3- exchanger associated with inherited distal renal tubular acidosis.

Shayakul C, Alper SL
Clin Exp Nephrol 2004 Mar;8(1):1-11. doi: 10.1007/s10157-003-0271-x. PMID: 15067510

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Diagnosis

A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.

Aly NH, Elalfy MS, Elhabashy SA, Mowafy NM, Russo R, Andolfo I, Iolascon A, Ragab IA
Blood Cells Mol Dis 2023 Nov;103:102779. Epub 2023 Jul 16 doi: 10.1016/j.bcmd.2023.102779. PMID: 37558589

Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice.

Wang X, Liu A, Lu Y, Hu Q
Mol Med Rep 2019 Apr;19(4):2801-2807. Epub 2019 Feb 8 doi: 10.3892/mmr.2019.9947. PMID: 30816434 Free PMC Article

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