ABC of clinical haematology: Platelet disorders

Abc of Clinical Haematology

ABC of clinical genetics. Chromosomal disorders II.

Developmental delay in child with deletion of chromosome 13. Chromosomal abnormalities are generally associated with multiple congenital malformations and mental retardation. Children with more than one physical abnormality, particularly if retarded, should therefore undergo chromosomal analysis as part of their investigation. Chromosomal disorders are incurable but can be reliably detected by ...

Clinical applications of molecular haematology: JAK2 in myeloproliferative disorders.

Molecular markers are helpful in diagnosis, prognosis and management of haematological malignancies. Recently, a single point mutation in the Janus Kinase 2 (JAK2) gene in the Philadelphia-negative myeloproliferative disorders, including polycythemia vera (over 95%), essential thrombocythemia (50%) and primary myelofibrosis (50%) was identified by several groups. This mutation is now considered...

ABC of clinical genetics. Treatment of genetic disorders.

Letter written by boy aged 11 with Duchenne muscular dystrophy. The prevention of inherited disease by means of genetic and reproductive counselling and prenatal diagnosis is often emphasised. Genetic disorders may, however, be amenable to treatment, either symptomatic or potentially curative. Treatment may range from conventional drug or dietary management and surgery to the future possibility...

ABC of Transfusion. Platelet and granulocyte transfusions.

Multiple.packs for collection of blood. Left to right: transfer pack containing optimal additive solution; primary pack containing 450 ml of blood in anticoagulant; and pack for collection of platelets with extended shelf ife. Transfusion of platelets and granulocytes may be needed for patients with life threatening thrombocytopenia and neutropenia caused by bone marrow failure. These may be th...