Congenital Dyserythropoietic Anaemia Type II: A Rare Blood Disorder in a Nigerian Child

The congenital dyserythropoietic anaemias (CDA) are a rare group of inherited haematological disorders characterized by congenital anaemia, ineffective erythropoiesis in the bone marrow and dysplasia in developing erythroblasts. In Africa where sickle cell anaemia and thalassaemias are common, diagnosis of CDA may be missed. We report a six year old girl who presented in anaemic heart failure with a haemoglobin concentration of 5.1g/dL and a history of recurrent anaemia of two years duration which required multiple blood transfusions. Peripheral blood film features showed red cell anisopoikilocytosis with occasional nucleated red cells- some of which were multinucleated. Her haemoglobin genotype was AA. Bone marrow aspiration revealed a markedly hypercellular marrow with severe erythroid hyperplasia and dyserythropoiesis. Her serum ferritin was also markedly elevated. Based on the clinical, laboratory and characteristic bone marrow findings, a diagnosis of CDA type II was made. She was transfused and placed on iron chelation therapy. Her parents were counseled on treatment options and she is currently on follow up.

Monosomy 21 Mosaicism in a Child with Dyserythropoiesis

All complete monosomy 21 appear to be lethal early in their development in humans and only survive in mosaic forms. Complete monosomy 21 is a very rare and usually debilitating genetic disorder. Partial monosomy 21 is also rare and is thought to constitute a clinical syndrome consisting of peculiar faces, hypertonia, psychomotor retardation, and slow growth. We experienced a case of monosomy 21 mosaicism. Chromosome analysis demonstrated mosaicism for cell lines in the lymphocytes examined; 45, XX, -21/46, XX. The main clinical features were craniofacial dysmorphism including high arched palate, submucosal cleft, micrognathia and arthrogryposis-like symptoms including flexion deformity of fingers. And hematological findings were revealed dyserythropoiesis, thrombocytopenia and eosinophilia. Currently, the patient has nearly compatible growth, but a mild degree of mental retardation. We report here an 8 years old female child with apparent monosomy 21 mosaicism associated with dyserythropoiesis, thrombocytopenia and eosinophilia, with a review of the associated literatures.

Acquired Idiopathic Sideroblastic Anemia: A clinical study of 15 patients / 대한혈액학회지

BACKGROUND: Acquired idiopathic sideroblastic anemia (AISA) is a heterogeneous condition. Most instances, involving only the erythroid line, are benign disease with a longer survival and a low propensity for evolution into acute leukemia. A subset of patients have severe clinical course and evidence of other cell line involvement at presentation, may develop the emergence of blast cells and evolution into acute leukemia. In an attempt to identify the natural history and the risk factors for the development of acute leukemia, the clinical, hematological and outcome data were studied in the patients with AISA. METHODS: We reviewed retrospectively the medical records of 15 patients of AISA treated at the Catholic University of Taegu-Hyosung and Kyungpook National University Hospital from March 1989 to December 1995. RESULTS: The median age at diagnosis was 41 years and the male to female ratio was 8 : 7. On bone marrow examination, erythroid abnormalities were prominent in all cases, 5 patients also showed involvement of the granulocytic and/or megakaryocytic cell lines (AISA with myelodysplastic features, AISA-M). The median follow-up duration was 32 months. Transfusion dependence occurred in 11 of 16 cases. Progression towards refractory anemia with excess of blasts or acute leukemia (M2) was observed in two patients with AISA-M after follow-up period of 16 months and 24 months, respectively. Infections and hemorrhages were causes of death in 3 patients with AISA-M but not in patients with dyserythropoiesis only (AISA-erythroid, AISA-E). CONCLUSIONS: Most patients with AISA have a relatively benign course with prolonged survival after the onset of anemia. Patients with features of dysgranulopoiesis and/or dysmegakaryopoiesis in addition to dyserythropoiesis at presentation were increased risk of transformation to refractory anemia with excess of blasts or acute leukemia and shorter surtival. But further study of larger numbers of patients and longer follow-up may be warranted.