PB1971 STEPWISE APPROACH TO UNDIAGNOSED ANEMIA IN CHILDREN: A MODEL FOR LIMITED RESOURCES SETTINGS

Abstract

Background:Undiagnosed inherited anemia is a unique clinical entity in tertiary hematology centers. Reaching confirmed diagnosis is challenging and requires series of complex expensive investigations.The high prevalence of iron deficiency and thalassemia carriers makes the diagnosis of other classes of anemia more challenging.Aims:we aimed at plotting a stepwise diagnostic approach in children with undiagnosed anemia which can be applied in restricted resource settings.Methods:A cross‐sectional study involved 45 still undiagnosed anemia patients after routine panel of investigations. They were classified based on mean corpuscular volume (MCV) into 3 groups; microcytic (n = 19),normocytic (n = 14) and macrocytic group(n = 12). An algorithm was plotted for each category including 4 levels of investigations. The fourth level analysis included genetic based analysis in appropriate setting.Results:After applying a systematic approach; 24 (54%) were probably diagnosed, 8 (18%) confirmed diagnosis,3 (6%) combined diagnosis and 10 (21%) patients remain undiagnosed. By primary, second, third levels; 9 patients were (5 microcytic,3 normocytic,1 macrocytic),8 (4 microcytic,2 normocytic,2 macrocytic) and 18 patients (5 microcytic, 8 normocytic,5 macrocytic) were diagnosed respectively; while 10 patients necessitated a fourth line level (8 microcytic and 2 normocytic).The diagnoses attained in microcytic group were hemoglobinopathies (42%),iron refractory iron deficiency anemia (IRIDA) (15%), membrane defect (10%), sideroblastic anemia (10%),hypotransferrenemia (5%), 15 % combined diagnosis (iron deficiency anemia and beta thalassemia minor, one sickle cell disease with pyropoikilocyosis and one alpha thalassemia and hereditary spherocytosiswhile15% remained undiagnosed. In normocytic group, the diagnosis washerediatary spherocytosis (20%), pyruvate kinase deficiency(15%), CDA type II (28%), beta thalassemia major (7%),Diamond Blackfan anemia (7%), vitamin B12 deficiency (15%) and 30% with no confirmed diagnosis,. In the macrocytic group, vitamin B12 deficiency (25%), PK deficiency(8%), sideroblastic anemia(8%) CDA II (16%) and 40% undiagnosed;by applying the four level of investigation, diagnosis was changed in 2,7 and 7 in microcytic, normocytic and macrocytic respectively.Summary/Conclusion:Setting a stepwise approach with different levels of may help to reach diagnosis of difficult anemia without performing unnecessary investigation showed that microcytic anemia was more frequent.High frequency of B12 deficiency presented either as normocytic or macrocytic was reported in this study. 40% remained with indefinite diagnosis after series of investigations