Congenital Dyserythropoetic Anemia with Sideroblasts and Ringed Forms

Abstract

Letters to the EditorCongenital Dyserythropoetic Anemia with Sideroblasts and Ringed Forms Khaled Kamaleddin Mohamed and MD Abdulatif AlfaraidyFachartz Khaled Kamaleddin Mohamed Consultant Pediatrician, Department of Pediatrics, King Faisal University/King Fahd Hospital of the University, P.O. Box 40163, Al Khobar 31952, Saudi Arabia Search for more papers by this author and Abdulatif Alfaraidy Professor and Chairman, Department of Pediatrics, King Faisal University/King Fahd Hospital of the University, P.O. Box 40163, Al Khobar 31952, Saudi Arabia Search for more papers by this author Published Online:1 Sep 2002https://doi.org/10.5144/0256-4947.2002.408SectionsPDF ToolsAdd to favoritesDownload citationTrack citations ShareShare onFacebookTwitterLinked InRedditEmail AboutIntroductionTo the Editor. Congenital dyserythropoietic anemias (CDA) are a group of hereditary refractory anemias characterized by ineffective erythropoiesis, typical morphological abnormalities of erythroblasts, low or no reticulocyte response, hyperbilirubinemia and splenomegaly.1 We report a case of CDA with ringed sideroblasts presenting neonatally. This is a rare finding in CDA.2CASE REPORTA full-term male Saudi infant presented after delivery with pallor, splenomegaly (6 cm below left costal margin) and a systolic murmur over the left precordium. CBC showed hemoglobin at 11.8 g%, hematocrit 36.8%, mean corpuscular volume (MCV) 100 fl, and reticulocytes at 12.5%. Peripheral blood smear suggested erythroblastosis fetalis. Hb electrophoresis showed Hb A1 at 21.3%, Hb F 70.9%, and Hb Bart's at 7.2%. G6PD screen was normal. Echocardiography showed a small ventricular septal defect and patent ductus arteriosus. The diagnosis of a-thalassemia, probably Hb H disease, was initially considered.On the fourth day of life, the Hb dropped to 9.7 g% and the patient was transfused. Two months later, the Hb dropped to 4.2 g% and a second packed RBC transfusion was given. At age of 4½ months, Hb was 5.8 g%, MCV 77 fl, and reticulocytes 2.5%. Repeat Hb electrophoresis showed Hb A1 at 99%, and Hb A2 at 1%. Hb H preparation as well as acidified serum (Ham) test was negative. Serum ferritin was high. Bone marrow aspiration showed brisk erythropoiesis with dyserythropoietic features such as moderate megaloblastic morphology, binuclearity, cytoplasmic bridges, many mitotic granules and occasional ring sideroblasts.DISCUSSIONCDAs are a group of hereditary refractory anemias characterized by ineffective erythropoiesis, typical morphological abnormalities of erythroblasts, low or no reticulocyte response, hyperbilirubinemia and splenomegaly.3 CDA can be diagnosed in early childhood, however, diagnosis is complicated due to poor knowledge of the morphological criteria and the large number of differential diagnoses that have to be excluded.4Our patient had an early onset of anemia and splenomegaly (at birth) He had sideroblasts in the bone marrow with occasional ring forms, which is a rare finding in CDA.2 Absence of microcytosis and hypochromia makes sideroblastic anemia unlikely.5The first Hb electrophoresis revealed a picture of α-thalassemia trait. The level of Hb Bart's (7.2%) should have been considered relatively low for Hb H disease.6 The correct diagnosis of CDA was made at the age of 4½ months after presentation. However, the mean age for establishing the correct diagnosis seems to be much later in other reports.7ARTICLE REFERENCES:1. Delaunay J, Iolascon A. "The cogenital dyserythropoietic anemias" . Baillieres Best Pract Res Clin Hematol. 1999; 12:691–705. Google Scholar2. Soysal T, Akun E, Ozaras R, et al.. "Congenital dyserythropoietic anemia type 1 with ringed sideroblasts" . Hematologia (Budapest). 2000; 30:45–9. Google Scholar3. Tekinalp G, Sarici SU, Erdinc AS, et al.. "Lethal hydrops fetalis due to congenital dyserythropoietic anemia in a newborn: association of a new skeletal abnormality" . Pediatr Hematol Oncol. 2001; 18:537–42. Google Scholar4. Rossler J, Havers W. "Diagnosis and genetics of congenital dyserythropoietic anemia (CDA)" . Klin Pediatr. 2000; 212:153–9. Google Scholar5. Elias S. Sideroblasts anemias. In: Behrman , Kliegman , Jenson editors. Nelson Textbook of Pediatrics. Philadelphia: Saunders, 2000: 1471. Google Scholar6. Quadri MI, Islam SI, Zaki Nasserullah. "The effect of α-thalassemia on cord blood red cell indices and interaction with sickle cell gene" . Ann Saudi Med. 2000; 20:367–70. Google Scholar7. Iolascon A, Delaunay J, Wickramasinghe SN, et al.. "Natural history of congenital dyserythropoietic anemia type 2" . Blood. 2001; 15;1258–60. Google Scholar Previous article Next article FiguresReferencesRelatedDetails Volume 22, Issue 5-6September-November 2002 Metrics History Published online1 September 2002 InformationCopyright © 2002, Annals of Saudi MedicinePDF download