Hermansky-Pudlak syndrome in pregnancy: A case report.

Hermansky-Pudlak syndrome is a rare autosomal recessive disorder estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Clinically, it presents as oculocutaneous albinism combined with bleeding diathesis. This is due to the absence of dense bodies in platelets causing a delayed secondary response resulting in prolonged bleeding time despite normal platelet count and coagulation factors. This has consequences for major bleeding, the risk of which is high at delivery. In the longer term, the condition is also associated with the development of pulmonary fibrosis, inflammatory bowel disorders caused by granulomatous colitis and renal failure. We present a case of a patient with Hermansky-Pudlak syndrome diagnosed and managed through her second pregnancy by the Obstetric Haematology team in a Tertiary Unit. During her previous pregnancy at a District Hospital, they had not been aware of the diagnosis; she then had a forceps delivery and her haemoglobin dropped to 69 g/L. During this pregnancy, she was managed in a multidisciplinary setting involving obstetrics, haematology, anaesthesia and neonatology. She was induced at 39 weeks and had human leukocyte antigen-matched platelets prepared for her delivery. Her platelet count was normal throughout the pregnancy. She had a normal vaginal delivery under platelet cover and also received tranexamic acid at the time of cord clamping. Her blood loss was moderate and her haemoglobin dropped from 115 to 97 g/L. She recovered well. We discuss the diagnosis, pathology and management of this very rare condition in pregnancy and thereafter.

An intensive approach to treatment for older patients with relapsed isolated NPM1 mutated AML.

We present a short case series of elderly patients with NK-AML and isolated NPM1 mutation who were treated with intensive chemotherapy, achieving significant CRs multiple times on reinduction, even with a single course.We hope to highlight the NPM1 as a molecular marker in elderly for consideration of aggressive treatment, even if abridged, as this subset may achieve a durable, good quality responses at diagnosis or subsequent relapses.

The diagnostic challenge of congenital dyserythropoietic anaemia: two cases of 'CDA type II'.

The congenital dyserythropoietic anaemias (CDAs) are a group of rare hereditary disorders characterised by ineffective erythropoiesis and morphological abnormalities in the erythroblasts. Patients may present with jaundice or with symptoms of anaemia, gall stones or iron overload. The diagnosis can be challenging and cases have been confused with haemolytic anaemia, haemochromatosis or a haemoglobinopathy. A delayed diagnosis can lead to inappropriate treatment or delayed management of iron overload. We present two patients previously diagnosed as CDA type II in whom the diagnosis was revised to CDA type I and to hereditary spherocytosis. The conditions are compared and the approach to diagnosis is discussed.

Perioperative Management of Type 2N Von Willebrand's Disease with Recombinant Factor VIII in a Patient Undergoing Knee-Replacement Surgery.

Type 2N Von Willebrand's disease (2N VWD) is a rare, recessively inherited bleeding disorder, comprising 1-2% of all VWD patients, usually manifesting as a mild bleeding diathesis. Treatment includes desmopressin (DDAVP) or intermediate purity plasma-derived FVIII concentrates containing residual VWF. We present a case of a 75-year-old gentleman, incidentally diagnosed with type 2N VWD in 2002 on routine blood testing before surgery with an ISTH bleeding score of 1-2, who was treated with recombinant FVIII preoperatively.