Thalassaemia and Sickle Cell Anaemia

Consists of two alpha globin chains and two beta globin chains ( adult haemoglobin)

Consists of two alpha globin and two delat globin chains

Inherited mutations or deletions that reduce or dont produce alpha or beta globin chains; Causes ineffecting erythropoesis or haemolysis

Point ,mutations that affet RNA splicing, transcription or transolation

Mediterranean; Middle Est; North Africa; South Asia and Southeats Asia

Southeast Asia; Southern China; Mediterranaean; Middle East; Africa

Autosomal recessive

Reduced beta globin synthesis causes excess unpaired alpha chains to accumulate damaging erythryoid precursors and red cells

Severe anaemia; Pallor; Jaundice; Growth failure; Hepatosplenomegaly; Bone marrow expansion

Microcytic hypochromic anaemia; Fatigue; Pallor; Jaundice; Splenomegaly

Reegular red blood cell transfusion, iron chelation therpay, management of complications; HPST transplansts

Body cannot excrete large amounts of iron; Iron accumulations can damage the heart, liver, endocrine organs causing cardiomyopathy, liver firbosis or cirhosis, diabtes, hypothyroidsim

Serial serum ferrtin measurements; Liver iron conc

To bind excess iron and proote its excretion, reduce tissue iron accumulation, prevent organ damage and improve long termm survival and quality of life

Deferasirox

Usually every 2–5 weeks, depending on the patient's needs.

Alligenic haematopoeitic stem cell transplant and selected gene therapies

A missense mutation in the HBB gene causing glutamic acid to be replaced with valine

Chronic haemolytic anaemia, painful baso occlusive crises, acute chets syndrome, stroke, splenic dysfunction

Vaccination and infection prevention; Pencillin prophylaxis in young children; Hyroxyurea; Pain management; Transfusion

It increases fetal haemoglobin which inhibits HbS polymerisation which reduces red blood cells from sickling and haemolysis

Apherisis removes the patient’s red blood cells and replaces them with compatible donor red blood cells lowering the proportion of HbS

A tretament that replaces a patients sickled blood with healthy donot stem cells which can establish normal blood cell production

Identify affected babies and carriers; Enable early treatment and specialist follow up; Identify pregnancies at risk and provide infromed reproductive counselling and testing

Genetic counselling; Prenatal diagnosis

Heel prick test