Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred - PK deficiency masquerading as Congenital Dyserythropoietic Anemia.
Keyword(s):
A 15 year child is presented with transfusion dependent chronic anemia. The clinical and laboratory features suggested a chronic nonspherocytic hemolytic anemia (CNSHA) with bone marrow suggestive of congenital dyserythropoietic anemia (CDA). DNA studies revealed the underlying novel mutation in the PKLR gene responsible for pyruvate kinase deficiency.
1986 ◽
Vol 146
(4)
◽
pp. 785-786
◽
2001 ◽
Vol 160
(8)
◽
pp. 523-524
◽
1963 ◽
Vol 269
(15)
◽
pp. 763-770
◽
Keyword(s):
1985 ◽
Vol 153
(3)
◽
pp. 313-314
◽
Keyword(s):
2020 ◽
Vol 7
(2)
◽
pp. 86-93