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. 2015 Feb 23;125(4):1665–1669. doi: 10.1172/JCI78619

Figure 1. Identification of an ALAS2 mutation in a family with macrocytic anemia and dyserythropoiesis.

Figure 1

(A) BM aspirate from the proband (II-2) with erythroid hyperplasia. (B) Prussian blue staining revealed rare erythroblasts with siderotic granules. (C) BM aspirate with dyserythropoiesis. (D) Core biopsy demonstrating erythroid hyperplasia and dyserythropoiesis. (E) Pedigree of the family, with affected individuals highlighted by half-filled circles. Arrows highlight those individuals who underwent whole-exome sequencing. (F) Sanger sequencing traces around X chromosome position 55042086 (hg19 coordinates) in 2 affected individuals. Original magnification, ×100 (A and B) and ×2000 (C and D).