Anaemia thalassaemia

Hypochromic and microcytic cells Iron deficiency Sideroblastic anaemia Thalassaemia and haemoglobinopathy... 

Treatment of chronic iron overload, e.g. haemochro-matosis, patients who are transfusion-dependent due to chronic haemolytic anaemias, thalassaemia and refractory anaemias with transfusional iron overload (siderosis). The goal of therapy is the reduction and maintenance of body iron stores at normal or near-normal levels to avoid the tissue damage associated with iron overload. 

Numerous congenital or acquired diseases lead to haemolysis, (s. p. 218) (s. tab. 12.3) They are subsumed under the term haemolytic syndrome. Particularly, sickle-cell anaemia, thalassaemia and paroxysmal nocturnal haemoglobinuria are worthy of mention in this context. 

Haemophilia Hypercholesterinaemia Hyperlipoproteinaemia II Niemann-Pick disease Oxalosis Porphyria Reye s disease Sanfilippo s syndrome Sickle cell anaemia Thalassaemia (P)... 

Cataractogenesis Thalassaemia and other chronic anaemias treated with... 

Bone marrow transplantation, particularly allogenic transplantation, is often a treatment of choice for individuals suffering from acute or chronic leukaemia, aplastic anaemia or various stem cell-related genetic disorders (e.g. thalassaemias). 

Iron absorption may also be increased secondary to chronic haemolysis as in patients with thalassaemia intermedia. In this group of patients, the anaemia is not usually sufficiently severe to necessitate regular blood transfusions as in thalassaemia major, but iron accumulates over many years from increased absorption via the gut. However, unlike haemochromatosis, venesection is not a therapeutic option, and iron chelation is the only effective way to remove the excess iron. 

Patients with transfusion siderosis require a long-term programme of chelation therapy. In patients who are transfusion-dependent from infancy (thalassaemia major, congenital refractory anaemia) chelation therapy is commenced after 10-20 transfusions at about 3 years of age. In older patients with acquired transfusion-dependent anaemias chelation is commenced after 20 transfusions or when the serum ferritin is 2-3 times the upper limit of normal. 

Acute leucosis, chronic lymphadenosis, chronic myelosis, erythroblastosis, haemolytic anaemias, Werlhof s disease, osteomyelosclerosis, polycyth-aemia vera, thalassaemia, shunt hyperbilirubin-aemia, etc. 

Thalassaemia, spherocytosis, sickle-cell anaemia and glucose-6-phosphate dehydrogenase deficiency are rare causes. 

K23. Konotey-Ahulu, F. I. D., and Ringelhann, B., Sickle-cell anaemia, sickle-cell thalassaemia, sickle-ceU haemoglobin C disease, and asymptomatic haemoglobin C thalassaemia in one Ghanaian family. Brit. Med. J. i, 607-612 (1969). 

Prenatal screening Haemophilia Sickle cell anaemia 3-Thalassaemia Duchenne muscular dystrophy Batten disease Sex determination... 

Sickle cell disease and thalassaemia are examples of inherited haemolytic anaemias. 

The selection pressure exerted by malaria is strong enough to maintain sickle-cell anaemia and the thalassaemias at a high frequency in populations across Africa and Asia. These conditions are not isolated curiosities, but part of a spectrum of adaptations that enable people to survive in areas where malaria is endemic. Among the most important of these adaptations is malarial tolerance. Tolerance develops after infections in early childhood and lasts a lifetime. It is not the result of a heightened ability to kill parasites (as in vaccination) but the triumph of realpolitik —... 

Thalassaemia is an inherited group of disorders in which there is deficient globin production resulting in a severe haemolytic anaemia. It may affect the alpha... 

Thalassaemia major presents in early childhood with hepa-tosplenomegaly, anaemia and jaundice. Thalassaemia minor... 

A meta-analysis describes the efficacy and safety of deferasirox for the treatment of transfusional hemosiderosis, beta-thalassaemia, sickle cell disease and bone marrow failure syndromes, including myelodysplastic syndrome and aplastic anaemia [12 ]. Reported side effects of the meta-analysis included gastrointestinal (GI) events, skin rash, transient increase in serum creatinine, abdominal pain, nausea, and diarrhoea. A second meta-analysis analysed four studies [13 ]. The authors reported that data on safety at the doses required for effective chelation are limited, however. 

Frequent blood transfusions have to be given to children with severe aplastic anaemia or homozygous thalassaemia to allow for a normal growth pattern and a sufficient quality of life. After puberty, however, the clinical effects of iron deposition appear. Iron deposits are extensive in the ventricular myocardium, but toxic lesions occur also in other organs, particularly in the liver. The condition deteriorates progressively, causing death during adolescence or early adult life (17 ). 

Better antidotes are required for treating chronic iron poisoning, which is common after the repeated blood transfusions used in treating two genetically-determined diseases, thalassaemia (Cooley s anaemia) and... 

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