Table 1 Haematological, Biochemical and Clinical Profile of 11 Patients with CDA type II
Family | Proband | Age at diagnosis/ Sex | RBC (x106/ul) | Hb (g/dL) | HCT (%) | MCV (fl.) | MCHC (g/dL) | RDW (%) | Retic (%) | BM-LM | Presenting Symptoms | EMA (MCF) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
F1 | II – 2 | 5Y/M | 1.89 | 4.3 | 13.8 | 73 | 31.2 | 29.7 | 3 | Erythroid hyperplasia, few bi & multinucleated erythroblasts, occasional karyorrhectic forms, mild dyserythropoiesis | Chronic anemia, Hepato-Splenomegaly | 849 |
F2 | II – 1 | 33Y/M | 2.16 | 5.8 | 17.3 | 80.1 | 33.5 | 23 | 0.9 | Erythroid hyperplasia, binucleated erythroblasts, dyserythropoiesis | Pallor, Icterus, anemia Cholelithiasis, haemolytic facies | 593 |
F3 | II – 1 | 3 m/M | 2.7 | 7.5 | 20.7 | 76.7 | 36.2 | 15.2 | 9 | Not Done | Severe anemia, hepato-splenomegaly, neonatal jaundice | 886 |
F4 | II – 2 | 9 Y/ F | 2.64 | 6.9 | 19.1 | 72.3 | 36.1 | 27.3 | 8 | Erythroid Hyperplasia, binucleated erythroblasts | Chronic anemia, Hyperbilirubinemia | 630 |
F5 | II – 3 | 12Y/M | 2.66 | 7 | 21.5 | 80.8 | 32.6 | 30 | 4 | Not Done | Severe anemia, Icterus | 995 |
F6 | II – 1 | 9Y/ M | 1.65 | 6.2 | 18.3 | 110.9 | 33.9 | 20.7 | 2.4 | Erythroid Hyperplasia, a large number of bilobed erythroid cells, some nuclear bridging | Severe anemia, Neonatal Jaundice, splenomegaly | 850 |
F7 | II – 3 | 13Y/M | 3.33 | 8.3 | 24.4 | 73.3 | 34 | 24.8 | 1.3 | Not Done | Chronic haemolytic anemia, Icterus, Pallor, hepatosplenomegaly | 780 |
II – 2 | 18Y/F | 2.94 | 8.8 | 24.1 | 82 | 36.5 | 22.1 | 1.6 | Erythroid hyperplasia, mild dyserythropoiesis, multinucleated erythroblasts, karyorrhexis, nuclear bridging | Severe anemia, recurrent jaundice, pallor, chipmunk facies | 856 | |
F8 | II − 3 | 15Y/M | 3.68 | 9.9 | 32 | 87 | 30.9 | 26 | 5 | Not Done | Anemia, pallor, icterus, moderate splenomegaly | 754 |
F9 | II − 2 | 12Y/M | 3.0 | 7.4 | 22.5 | 75 | 32.9 | 21.7 | 0.1 | Dyserythropoietic normoblasts | Severe pallor, severe anemia, neonatal jaundice, splenomegaly | 918 |
F10 | II − 2 | 6 m/F | 1.8 | 4 | 12.8 | 71.1 | 31.3 | 29.1 | 2.8 | Not Done | Severe pallor, anemia, hemangioma | 926 |