Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia

Motoshi Sonoda, Masataka Ishimura, Yuko Ichimiya, Eiko Terashi, Katsuhide Eguchi, Yasunari Sakai, Hidetoshi Takada, Asahito Hama, Hitoshi Kanno, Tsutomu Toki, Etsuro Ito, Shouichi Ohga

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Diamond–Blackfan anemia (DBA) is a congenital red cell aplasia arising from ribosomal protein (RP) defects. Affected patients present with neonatal anemia, occasional dysmorphism, and cancer predisposition. An anemic newborn was diagnosed with DBA due to RPL5 mutation (c.473_474del, p.K158SfsX26). Refractory anemia required regular transfusions and iron chelation therapy. Pancytopenia occurred at age 16 years. Bone-marrow studies showed myelodysplasia, erythroblastosis, and clonal evolution of del(20)(q11.2q13.3). Severe anemia required transfusions. Del(20q), including the L3MBTL1 gene, is reported to be relevant to the hematological phenotype of Shwachman–Diamond syndrome. A combined defect of RPL5 and L3MBTL1 may contribute to the aberrant erythropoiesis in the present case.

Original languageEnglish
Pages (from-to)228-231
Number of pages4
JournalInternational journal of hematology
Volume108
Issue number2
DOIs
Publication statusPublished - Aug 1 2018

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Anemia
Neonatal Anemia
Clonal Evolution
Chelation Therapy
Refractory Anemia
Pancytopenia
Ribosomal Proteins
Erythropoiesis
Iron
Bone Marrow
Newborn Infant
Phenotype
Mutation
Genes
Neoplasms

All Science Journal Classification (ASJC) codes

  • Hematology

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Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia. / Sonoda, Motoshi; Ishimura, Masataka; Ichimiya, Yuko; Terashi, Eiko; Eguchi, Katsuhide; Sakai, Yasunari; Takada, Hidetoshi; Hama, Asahito; Kanno, Hitoshi; Toki, Tsutomu; Ito, Etsuro; Ohga, Shouichi.

In: International journal of hematology, Vol. 108, No. 2, 01.08.2018, p. 228-231.

Research output: Contribution to journalArticle

Sonoda, Motoshi ; Ishimura, Masataka ; Ichimiya, Yuko ; Terashi, Eiko ; Eguchi, Katsuhide ; Sakai, Yasunari ; Takada, Hidetoshi ; Hama, Asahito ; Kanno, Hitoshi ; Toki, Tsutomu ; Ito, Etsuro ; Ohga, Shouichi. / Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia. In: International journal of hematology. 2018 ; Vol. 108, No. 2. pp. 228-231.
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AU - Eguchi, Katsuhide

AU - Sakai, Yasunari

AU - Takada, Hidetoshi

AU - Hama, Asahito

AU - Kanno, Hitoshi

AU - Toki, Tsutomu

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