Journal of pediatric hematology/oncology
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J. Pediatr. Hematol. Oncol. · Aug 2018
Case ReportsKLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity.
We identified a child with KLF1-E325K congenital dyserythropoietic anemia type IV who experienced a severe clinical course, fetal anemia, hydrops fetalis, and postnatal transfusion dependence only partially responsive to splenectomy. The child also had complete sex reversal, the cause which remains undetermined. ⋯ Hypomorphic alleles in SEC23B and YARS2 were also identified. We hypothesize that coinheritance of variants in relevant erythrocyte genes contribute to the clinical course in our patient and other E325K-linked congenital dyserythropoietic anemia IV patients with severe clinical phenotypes.
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J. Pediatr. Hematol. Oncol. · Aug 2018
Hepatitis-associated Aplastic Anemia Treated Successfully With Antithymocyte Globulin.
Hepatitis-associated aplastic anemia (HAAA) is a variant of acquired aplastic anemia in which bone marrow failure follows the development of an acute episode of seronegative hepatitis. HAAA occurs most frequently in male children and is lethal if left untreated. Antilymphocyte globulin, antithymocyte globulin, and allogeneic bone marrow transplantation have been used in the treatment of this disease. In this work, we report the case of a 3-year-old boy with HAAA treated successfully with immunosuppressive therapy.