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Additional info for ABC of Clinical Haematology
3 Giant granular platelets in peripheral blood film as seen in Bernard-Soulier syndrome or May Hegglin anomaly. 4 Site of abnormality in congenital platelet disorders. Other conditions There are also a variety of further specific surface membrane defects and internal enzyme abnormalities, which, although difficult to define, can cause troublesome chronic bleeding problems (Fig. 5). Acquired abnormalities Decreased production of platelets Decreased platelet production caused by suppression or failure of the bone marrow is the commonest cause of thrombocytopenia.
In ALL, cytogenetics also provides important prognostic information with the presence of the Philadelphia chromosome [t(9;22)] predicting poor long-term disease-free survival, whereas hyperdiploid karyotypes are associated with an improved outcome. Many of the common translocations present in AML or ALL result in the formation of a novel gene, which can be detected in the bone marrow by the polymerase chain reaction (PCR). This allows confirmation of diagnosis and permits the monitoring of the response to treatment.
Operative morbidity and mortality can be high, and are usually secondary to thrombosis or haemorrhage, making preoperative correction of coagulation abnormalities imperative. Low-dose irradiation of the spleen may be helpful in frail patients. Death can be due to haemorrhage, infection or transformation to acute leukaemia. Portal hypertension with varices, iron overload from blood transfusion and compression of vital structures by extramedullary haemopoietic masses may also contribute to morbidity and mortality.