Atypical presentation of vitamin B12 deficiency mimicking erythroleukaemia in a patient with beta-thalassaemia trait

A 47 year-old patient with vitamin B12 deficiency and beta-thalassaemia trait is presented. A referring diagnosis of erythroleukaemia had been made. At admission the haemoglobin was 72 g/l; haematocrit,.221; mean corpuscular volume [MCV], 91.4 fl; white blood cell count, 2.6 x 109/l and platelet count, 68 x 109/l. Haemoglobin studies showed: haemoglobin A2 4.9% and haemoglobin F, 6.8% concentration. Bone marrow examination showed erythroid hyperplasia with severe dyserythropoiesis and increased immature cells resembling megaloblasts. Three months after treatment with vitamin B12 the pancytopenia resolved and the red blood cells showed microcytosis: haemoglobin, 158 g/l; haematocrit,.489, MCV, 67. 6fl; white blood cell count, 6.1 x 109/l; and platelet count, 384x 109/1. The levels of haemoglobin A2 and F remained elevated six months post-treatment. Two particular aspects are outlined: the absence of typical macrocytic anaemia when vitamin B12 deficiency is combined with thalassaemia trait and the need to rule out folate/vitamin B12 deficiency before establishing a diagnosis of haematopoietic malignancy with dyserythropoiesis such as erythroleukaemia

Certain tumour markers in long standing chronic hepatitis B and C in Egyptian beta thalassemia

B-thalassemia major is the most Common haemolytic disease in Egypt and is transfusion dependent disease. Thalassemic patients have high prevalence of HCV and HBV. A study involving 135 polytransf used thalassemic Egyptian children was conducted from haematologic clinic Faculty of Medicine, Ain Shams Univesity and Ahmed Maher Teaching Hospital to determine the prevalence of HCV and HBV and the rule of blood transfusion in the spread of the virus and also to determine the levels of tumor markers AFPand CA 19.9 in the sera of the patients for early detection of HCC in polytransfused thalassemic patients with long standing chronic HCV and HBV. Also 25 healthy children considered as control group. Serum specimens were assayed for hepatitis markers [HBsAg, HBsAb, HBcAb [IgG, IgM] and HCV antibodies]. The result of this study showed that the prevalence of combined HCV and HBV was the highest one 79.2% then HBV only 10.4% then HCV antibodies 8.9% and lastly 1.5% had no any markers for HBV and HCV. Positive hepatitis cases were associated with increased duration of illness, and volume and number of transfusion when compared with negative cases. The high prevalence of HCV antibody [87.4%] among multitransfused children suggests that blood and blood products supplies should be regularly screened for HCV antibody. AFP and CA 19.9 measurements in cases showed that there is slight non significant increase in the level of both compared with control. Measuring of AFP and CA 19.9, liver sonography, isotope liver scan for selected cases showed no evidence of HCC in these patients

Study of hematopoietic progenitor cells in thalassemia after bone marrow transplantation.

The hematopoietic committed progenitor cells (BFU-E and CFU-GM) in blood and bone marrow were studied in thalassemic patients before and after bone marrow transplantation. Eighteen transplants were performed in 17 patients with thalassemia. Five were homozygous beta-thalassemia and 12 were beta-thalassemia/hemoglobin E disease. The age ranged from 1.2-14 years (median = 3.4 years). The conditioning regimen comprised busulfan 3.5-4 mg/kg/day for 4 days and cyclophosphamide 50 mg/kg/day for 4 days. Cyclosporin in combination with methotrexate were administered post transplant for GVHD prophylaxis. Before transplantation, BFU-E and CFU-GM in the blood of the patients were significantly higher compared with normal (p < 0.05) but were normal in the bone marrow. Only the CFU-GM in the bone marrow of the successful cases after transplantation recovered to the normal level at the first month through the 12th month whereas the BFU-E were low. Both CFU-GM and BFU-E in the blood were lower than normal after follow up to the 12th month. Inspite of the low number of progenitor cells, there was hematological recovery in the blood of the patients. It may be due to the capacity of the hematopoiesis react to stress which could be amplified the differentiation compartment or the shortened-transit time through the stem cell compartment.