Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Using a prospective and retrospective approach, the features of sickle cell disease (SCD) were investigated in 137 SCD children from the south-western region of Saudi Arabia. The patients were followed for a period of 2-5 years, during which period the severity of the disease was assessed and a 'severity index', was calculated for individual patients. The patients with SCD were classified into five groups based on the absence of thalassaemia (sickle cell anaemia, SCA), presence of beta zero-thalassaemia (HbS/beta zero-thalassaemia), SCA with alpha-thalassaemia.2 [heterozygotes (-alpha/alpha alpha) or homozygotes (-alpha/alpha)] and S/beta zero-thalassaemia with alpha-thalassaemia. The results showed a high prevalence of associated alpha-thalassaemia and variable levels of HbF in these patients. SCA patients with associated alpha-thalassaemia (-alpha/-alpha) and S/beta zero-thalassaemia patients with one alpha-gene deletion had the highest values for haematological parameters and lowest values of red cell indices. No specific difference could be identified in the clinical manifestations in the different groups with the exception that long bone crisis and hand-foot syndrome were not encountered in patients with associated alpha-thalassaemia. The frequency of hepatomegaly and splenomegaly was also lower in this group.
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PMID:The features of sickle cell disease in Saudi children. 221 76

About 120,000 infants are born each year with sickle cell disease (SCD) in Africa. The majority have Hb SS, but Hb SC and Hb S/beta+ thalassaemia are common in west Africa. The development of Plasmodium falciparum and P. malariae is partially inhibited in the Hb SS red cells, but malaria precipitates both haemolytic and infarctive crises, and is the commonest and most important cause of morbidity and mortality. The pneumococcus is likely to be the second major infectious cause of sickness and death. In one rural community, there were less than 2% of the expected number of subjects with SCD surviving beyond 5 years of age. Genetic factors improving prognosis include (1) the Senegal beta chain haplotype, which is linked to a high level of Hb F, and (2) alpha+ thalassaemia. Of environmental factors improving prognosis, the family is of first importance. The commonest age of presentation is 1-3 years. Children present with anaemic crises (malaria, splenic sequestration, folate deficiency, and possibly aplastic), infarctive crises (hand-foot syndrome, bone-pain, pulmonary and abdominal) or acute infections (malaria, pneumonia, septicaemia, meningitis, osteomyelitis). Tragically, many patients in central Africa have been infected by the human immunodeficiency virus (HIV) through blood transfusions; they present with generalised lymphadenopathy and other features of the acquired immunodeficiency syndrome (AIDS). The principles of management are (1) to ensure freedom from malaria, (2) to continue folic acid supplements, (3) to give blood transfusions only when anaemia endangers life, (4) to control pain, (5) to restore hydration, and (6) to prescribe broad spectrum antibiotics in large dosage and without delay, but only when there are definite indications, such as fever (greater than 39 degrees C), acute pulmonary disease, meningitis, and acute osteomyelitis. The advent of HIV and AIDS makes the control of SCD of even greater importance. Principles of control are (1) early diagnosis through appropriate laboratory techniques and selective screening, (2) education of parents, patients, health professionals and public, and (3) the maintenance of health at sickle cell clinics; measures must include antimalarial prophylaxis. SCD programmes should be integrated with primary health care and AIDS control programmes.
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PMID:The presentation, management and prevention of crisis in sickle cell disease in Africa. 265 Jul 73

The case is reported of an elderly patient with known previous exposure to fire ant stings, and who presented with hand-foot syndrome (HFS) in the setting of multiple fire ant stings to the lower extremities. Both hands and both feet were red, swollen, and mildly tender. Treatment was with fluocinonide cream, and all symptoms resolved as the classic fire ant skin lesions regressed. HFS was initially reported in association with acute crisis in sickle cell anemia and thalassemia and more recently as a common toxicity of chemotherapy administration. This is the first report of its occurrence in the setting of fire ant envenomization. Although recent literature may indicate a potential therapeutic benefit from COX-2 antagonists, the process appears to be self-limited, and requires only conservative treatment.
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PMID:Hand-foot syndrome in a patient with multiple fire ant stings. 1530 Nov 33