Table 3.

Known functions/pathways of a normal and pathological gene product of affected genes

Gene name	Known functions/pathways of normal and pathological gene products of affected genes that are potentially important for the HA phenotype in the studied family
NT5C3A	Pyrimidine and purine metabolism (REACTOME, KEGG); catalyze the dephosphorylation of nucleoside 5′-monophosphates; mutations in this gene are a cause of hemolytic anemia due to uridine 5′-monophosphate hydrolase deficiency; An important paralog of this gene is NT5C3B; expression in erythroblasts and CD71++++ cells
TYMP	Pyrimidine metabolism (REACTOME, KEGG); catalyzes the reversible phosphorolysis of thymidine; predicted interaction of TYMP and SCO2 genes products; expression in erythroblasts
SCO2	Pyrimidine deoxyribonucleoside degradation; predicted interaction of TYMP and SCO2 gene products; expression in erythroblasts
PUDP	Pyrimidine metabolism (REACTOME, KEGG); dephosphorylates pseudouridine 5-phosphate, a potential intermediate in rRNA degradation, and pseudouridine is then excreted intact in urine; expression in erythroblasts
HCFC1	Host cell factor; diseases associated with HCFC1 include methylmalonic acidemia and homocysteinemia (inherited in an X-linked manner); expression in erythroblasts
GEMIN8	mRNA processing; expression in erythroblasts
POLE	2′-Deoxyribonucleoside-5′-triphosphate: DNA deoxynucleotidyltransferase; participates in DNA repair and chromosomal DNA replication; expression in erythroblasts
XK	The kx blood-group antigen (kxa) family; diseases associated with XK include Mcleod neuroacanthocytosis syndrome and choreoacanthocytosis; expression in erythroblast and GPA++
RAD51C	Fanconi anemia group O, expression in erythroblasts and GPA++ cells

Developed based on data collected in the GeneCards database. Expression of the genes in erythroblasts [53]; erythroid cell lines and/or CD71⁺⁺⁺⁺ and GPA⁺⁺ type cells [based on the GeneCards Database and UniGene NCBI database: CD71⁺⁺⁺⁺ library (Lib,8975) and GPA⁺⁺ library (Lib,11923)]