Hematology Case Study - Diamond-Blackfan Anemia

Download PDF

This sample (see PDF) was drawn from a 2 year old patient presenting to the pediatrician with pica (consumption of non-nutritive substances). The initial CBC results led to the patient being redrawn per lab policy; the redraw confirmed the original values. The combination of a markedly decreased RBC, HGB, HCT and reticulocyte count in conjunction with the increased MCV led to an eventual diagnosis of Diamond-Blackfan Anemia (DBA).

Diamond-Blackfan Anemia is a congenital erythroid aplasia that usually presents within the first 1-2 years of life. The disorder is thought to be caused by a defect in erythroid precursor cells that results in early cell death and subsequent failure of the bone marrow to produce red blood cells. Oftentimes, DBA patients also have facial or skeletal abnormalities, depending on the severity of the disease. DBA can be distinguished from Fanconi’s anemia (which causes bone marrow aplasia) by the normal, or near-normal, WBC and platelet counts.

The only known cure for DBA is bone marrow transplant, but many patients can be put into remission with corticosteroid therapy and RBC transfusions, if needed. DBA patients are at a higher risk for developing cancer.

The clinical applications or uses presented in these materials, including case studies, are provided for illustration purposes only. Prior to using any Sysmex device, please review the manufacturer’s instructions use. It is the healthcare provider’s responsibility to determine applicability in routine clinical practice.

Sigue leyendo Download PDF