title: Whole blood of the eldest son of the N. family (III-1)
organism: Homo sapiens
description: The eldest son (III-1) was born as normal child with light craniofacial abnormalities. At the age of 4 months normocytic normochromic hyporegenatory anemia was observed. After a couple of transfusions hemoglobin level started to grow and at the age of three years hemoglobin level stabilized at normal range. Anemia was considered as transitional erythroblastopenia. At the age of 17 the III-1 was hospitalized at Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology with osteosarcoma of the right femur. Before chemotherapy blood test parameters were in the normal range. Following the initiation of cyclophosphamide chemotherapy the patient developed resistant aplasia and became transfusion-dependent for the remainder of his osteosarcoma treatment. After discontinuation of chemotherapy, steroid therapy was initiated, which was successful, and his hemoglobin level and reticulocyte count were sustained on prednisolone (0.2 mg/kg/day). At the time of research in blood test parameters were following: leukocytes 3,4*10(^9)/l, neutrophils 1,67*10(^9)/l, hemoglobin 135 g/l, erythrocytes 3,8*10(^12)/l, hematocrit 36%, MCV 94,7 fl, MCH 35,5 pg, MCHC 375 g/l, reticulocytes 2,71%, IRF 13,7%, thrombocytes 62*10(^9)/l.
attributes.tag: isolate
attributes.value: The eldest son of the N. family
attributes.tag: age
attributes.value: 20
attributes.tag: biomaterial_provider
attributes.value: Natalya S. Smetanina, nataliya.smetanina@fccho-moscow.ru
attributes.tag: sex
attributes.value: male
attributes.tag: tissue
attributes.value: whole blood
attributes.tag: disease
attributes.value: DOID:1339
attributes.tag: health_state
attributes.value: Diamond-Blackfan anemia
attributes.tag: BioSampleModel
attributes.value: Human