Table 1. Reported cases of aldolase A... | American Society of Hematology

Table 1.

Reported cases of aldolase A deficiency

		Mutation			Clinical description
Ethnicity	Consanguinity	DNA	Amino acid	Hemolytic anemia	Myopathy	Mental retardation	Reference
Canadian Jewish	Yes	Not reported	Not reported	Yes	No	Yes	1
Japanese	Probable	Not reported	Not reported	Yes	No	No	2
Japanese	Probable	386A>G	Asp128Gly	Yes	No	No	2,3
German	No	619G>A	Glu206Lys	Yes	Yes	No	4
Sicilian	No	931C>T, 1037G>A	Arg303X, Cys338Tyr	Yes	Yes	No	This report

		Mutation			Clinical description
Ethnicity	Consanguinity	DNA	Amino acid	Hemolytic anemia	Myopathy	Mental retardation	Reference
Canadian Jewish	Yes	Not reported	Not reported	Yes	No	Yes	1
Japanese	Probable	Not reported	Not reported	Yes	No	No	2
Japanese	Probable	386A>G	Asp128Gly	Yes	No	No	2,3
German	No	619G>A	Glu206Lys	Yes	Yes	No	4
Sicilian	No	931C>T, 1037G>A	Arg303X, Cys338Tyr	Yes	Yes	No	This report

DNA sequences are numbered from A of the ATG start codon.