Ann Lab Med.  2018 Jul;38(4):389-392. 10.3343/alm.2018.38.4.389.

Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing

• Yu HJ
• Lee YJ
• Shim JW
• Kim DS
• Shim JY
• Park MS
• Woo HY
• Park H
• Jung HL
• Kwon MJ

• KMID: 2408084
• DOI: http://doi.org/10.3343/alm.2018.38.4.389

Abstract

No abstract available.

MeSH Terms

Anemia, Sideroblastic*
High-Throughput Nucleotide Sequencing*
Humans
Infant*
Male*

Figure

• 

  Fig. 1 Peripheral blood smear, bone marrow aspiration, and iron staining results of the patient. (A) Wright-Giemsa-stained peripheral blood smear (×400) shows microcytic hypochromic anemia with anisopoikilocytosis (black arrows). (B, C) Wright-Giemsa-stained bone marrow aspirate (×400, ×1,000) shows small erythroblasts with abnormal condensation of nuclear chromatin and ragged cytoplasm. (D) Iron staining (×1,000) reveals multiple ringed sideroblasts, which comprise over 40% of erythroblasts.

• 

  Fig. 2 ALAS2 variant identified in this family. (A) Massively parallel sequencing (MPS) of candidate genes for sideroblastic anemia, including ALAS2 (chromosomal location: Xp11.21, red arrow), revealed a hemizygous mutation in this gene (c.508C>A; p.Arg170Ser) in the proband (displayed in reverse read direction in Integrative Genomics Viewer). (B) Sanger sequencing revealed that the mother was heterozygous for the c.508C>A mutation.

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