Day: March 15, 2024

Alpha thalassaemia

Overview Thalassaemia refers to a group of disorders characterised by reduced or absent globin chain production. Thalassaemia is one of the haemoglobinopathies, which refers to a group of autosomal recessive inherited disorders that affect the globin chains that form the protein component of haemoglobin. Haemoglobinopathies Haemglobinopathies can be broadly divided into two types: Haemoglobin variants: mutant forms of haemoglobin that affect the structure. Sickle cell disease is most well recognised. Thalassaemia: reduced or absent globin chain production due to underlying mutations. Thalassaemia Thalassaemia can be further divided depending on the type of globin chain affected: Alpha thalassaemia: reduced or absent production of

Acute myeloid leukaemia

Introduction Acute myeloid leukaemia occurs due to the malignant transformation and proliferation of myeloid progenitor cells. Leukaemia Leukaemia refers to a group of malignancies that arise in the bone marrow. They are relatively rare but together are the 12th most common cancer in the UK, responsible for around 4,700 deaths a year. There are four main types: Acute myeloid leukaemia (AML) Acute lymphoblastic leukaemia (ALL) Chronic myeloid leukaemia (CML) Chronic lymphocytic leukaemia (CLL) Presentation, prognosis and management all depend on the type and subtype of leukaemia. Acute myeloid leukaemia In AML proliferation of abnormal myeloid progenitor cells is seen. It refers to a heterogeneous group

Acute lymphoblastic leukaemia

Introduction Acute lymphoblastic leukaemia is the most common malignancy of childhood. Leukaemia Leukaemia refers to a group of malignancies that arise in the bone marrow. They are relatively rare but together are the 12th most common cancer in the UK, responsible for around 9,900 cases and 4,700 deaths a year. There are four main types: Acute myeloid leukaemia (AML) Acute lymphoblastic leukaemia (ALL) Chronic myeloid leukaemia (CML) Chronic lymphocytic leukaemia (CLL) Presentation, prognosis and management all depend on the type and subtype of leukaemia. Acute lymphoblastic leukaemia ALL arises from a clone of lymphoid progenitor cells that undergo malignant transformation. Most are B-cell in origin

Upper GI bleeding

Introduction Upper gastrointestinal bleeding (UGIB) is a common gastrointestinal emergency defined as bleeding with a source proximal to the ligament of Treitz. An UGIB is a relatively rare, but potentially life-threatening condition. Patients commonly present with haematemesis and/or melaena and may have features of shock (e.g. hypotension, collapse). Peptic ulcer disease, gastritis and oesophageal varices account for the majority of cases. Prompt recognition and management is essential to minimise morbidity and mortality. Epidemiology The incidence of acute UGIB is around 1 in 1,000 per year. UGIB occurs more frequently in males than females (♀ 1: 2 ♂). It has a mortality of 7-10% which has not improved significantly over

Ulcerative colitis

Introduction Ulcerative colitis is a chronic, inflammatory disease characterised by a relapsing-remitting course affecting the gastrointestinal tract. Inflammatory bowel disease Inflammatory bowel disease (IBD) is an umbrella term for two chronic inflammatory disorders of the gastrointestinal system: Ulcerative colitis (UC) Crohn’s disease (CD) Though related, the two conditions have different pathologies, presentations and treatments. Whilst UC is a continuous inflammation of the mucosa starting in the rectum (in most cases) and limited to the colon, in CD transmural patchy inflammation is seen throughout the gastrointestinal tract. Ulcerative colitis UC is a disease of the colonic mucosa, which has a relapsing-remitting course. It is