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)

S-Homozygotes, SC heterozygotes, and S-beta-thalassaemia heterozygotes are the haemoglobinopathies which make up sickle cell disease. Although their clinical features are similar, as regards complications during pregnancy, Hb S-beta-thalassaemia most dangerous, the main causes of mortality being severe anemia, acute sequestration crisis, bacterial infections, painful episodes, and pulmonary bone marrow fat embolism. Folic acid and antimalarials (where these are indicated) are often successful in preventing severe anaemia. It is best to reserve blood transfusion to replace moderate loss or to correct gross anaemia quickly when this is considered severe enough to threaten life. Painful crises are particularly common towards the end of pregnancy and in treating these episodes, analgesics, antibiotics, and sometimes heparin are used. S-homozygote carries additional hazards. Because of the prevalence of pelvic contraction, fetopelvic disproportion is common and so the incidence of operative deliveries is high. Many fetuses are lost through an increased incidence of abortion and perinatal mortality. In the survivors, there is evidence of intrauterine growth retardation brought about by continuous maternal anaemia throughout pregnancy.
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PMID:Sickle cell disease in pregnancy. 126 39

The clinical features of sickle cell disease (SCD) in Saudi Arab children of eastern origin are presented. One hundred and seventy-three children were diagnosed at birth and followed prospectively from 3 months to up to 4 years of age. There were 87 boys and 86 girls. Genotype distribution included 146 sickle cell anemia, 24 sickle beta +-thalassemia, two sickle beta 0-thalassemia, and one sickle hemoglobin C disease. Of our patients, 7% presented in the first 12 months of age and 27% remained asymptomatic at 4 years. Painful crises of bones and joints were the most common initial symptoms, followed by dactylitis, abdominal crises and acute splenic sequestration (ASS), occurring in 60%, 31.6%, 6.7%, and 1.7% of the patients, respectively. None of the patients presented with severe bacterial infections. During this study, 175 sickle cell crises were documented, but only 16 (9.1%) required hospital admissions. There were no deaths in this series. High hemoglobin F levels correlated with delayed clinical presentation and reduced number of crises. We conclude that SCD in children of eastern origin is clinically milder than earlier descriptions from the Eastern Province of Saudi Arabia.
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PMID:Clinical features of sickle cell disease in eastern Saudi Arab children. 168 68

Haematological, clinical and some molecular genetic features of homozygous sickle cell (SS) disease in Saudi Arabia have been compared in 33 patients from the Eastern Province (Eastern) and 30 from the South Western Province (Western). Eastern patients all had the Asian beta globin haplotype whereas Western patients were more variable but predominantly of the Benin haplotype. Eastern patients had more deletional alpha thalassaemia, higher total haemoglobin and fetal haemoglobin levels, and lower HbA2, mean cell volume, reticulocytes, and platelet counts. Clinically, Eastern patients had a greater persistence of splenomegaly, a more normal body build and greater subscapular skin fold thickness, and Western patients had more dactylitis and acute chest syndrome. Painful crises and avascular necrosis of the femoral head were common and occurred equally in both groups. The disease in the Eastern province has many mild features consistent with the higher HbF levels and more frequent alpha thalassaemia but bone pathology (painful crises, avascular necrosis of the femoral head, osteomyelitis) remains common. The disease in the West is more severe consistent with the Benin haplotype suggesting an African origin.
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PMID:Two different forms of homozygous sickle cell disease occur in Saudi Arabia. 171 63

Twenty-four patients with beta thalassaemia major, aged 8-22 years (mean 15.3 +/- 8.1) were given 1-2, dimethyl-3-hydroxypyrid-4-one (L1) orally for a period of three months. The drug was given in the dose of 25 mg/Kg/day for the first week and gradually increased to 100 mg/Kg/day which was continued until 3 months. The mean urinary iron excretion was 5.73 +/- 3.648 mg/day on 25 mg/Kg/day of L1; 15.2 +/- 11.225 mg/day on 50 mg/Kg/day; 24.2 +/- 12.69 mg/day on 75 mg/Kg/day and 36.3 +/- 19.4 mg/day on 100 mg/Kg/day of L1. Serum ferritin estimated by ELISA before and 3 months after L1 therapy in 21 patients showed significant drop in levels, the mean drop being 964.3 +/- 844.4 (P less than 0.001). The only side-effects noted were transient gastrointestinal symptoms in 5 patients and skeletomuscular pain in 3 patients. Both these groups of symptoms were of transient nature. The efficacy of L1 appears to be excellent and equivalent to the standard iron chelation therapy available at present i.e. desferrioxamine. It appears to be free of major toxicity. L1 is also a specific chelator for iron as it does not deplete trace metals. L1 appears to be a cheap and effective oral alternative to desferrioxamine for treating iron overloading.
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PMID:Efficacy and safety of 1-2, dimethyl-3-hydroxypyrid-4-one (L1) as an oral iron chelator in patients of beta thalassaemia major with iron overload. 181 96

Two cases of extramedullary hemopoiesis in the lower spinal column are reported. One of them was due to thalassemia major and the other to thalassemia intermedia. CT and MRI studies showed paraspinal and presacral masses respectively which caused nerve root compression. It is concluded that the differential diagnosis of low back pain and radicular or pseudoradicular pain should include extramedullary hemopoiesis.
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PMID:Low back pain due to extramedullary hemopoiesis. 183 86

Pain control using intramuscular analgesia is often unsatisfactory in sickle cell patients. In a pilot study, 15 patients with sickle cell anemia (SS) and one patient with SB thalassemia in vaso-occlusive crisis were treated with the Patient-Controlled Analgesia (PCA) technique using a Pharmacia Deltec Programmable pump (CADD PCA). Age range was 19-50 years (median = 27); there were nine females and seven males. The protocol consisted of 3 days of therapy using a background of continuous infusion meperidine. The starting dose was 20 mg/hr and was escalated to 30 mg/hr. The average amount given was 25.8 mg/hr. One to two boluses of 2.5-5.0 mg/dose (mode = 5.0) were also allowed each hour. In addition, patients number 8 through 16 were given hydroxyzine (Vistaril) 50 mg PO q6h. The number of days in pain prior to study entry (mean +/- SD) was 3.3 +/- 1.6. The number of pain sites per patient was 3.6 +/- 1.2. Using categorical and analog pain scales, patients' pain scores decreased only about 30%. However, most patients were fairly satisfied with the treatment and rated it overall as follows: 1 poor, 1 fair, 3 good, 6 very good, 4 excellent, 1 no comment. Patients number 8 through 16 gave higher ratings probably because a more idealized dosage regimen was being used by that time in the study. There were no adverse effects or major problems noted. It is our impression that PCA, when optimized, will be a safe and effective alternative method for providing patients with sickle cell vaso-occlusive crisis pain relief.
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PMID:Patient-controlled analgesia in patients with sickle cell vaso-occlusive crisis. 229 91

A study of 131 patients with homozygous sickle cell (SS) disease in Orissa State, India, indicated that, compared with Jamaican patients, Indian patients have higher frequencies of alpha thalassaemia, higher fetal haemoglobin, total haemoglobin, and red cell counts, and lower mean cell volume, mean cell haemoglobin concentration, and reticulocyte counts. Indian patients have a greater frequency and later peak incidence of splenomegaly, and hypersplenism is common. Painful crises and dactylitis are not uncommon in Indian patients but chronic leg ulceration is rare. Homozygous sickle cell disease in Orissa is similar to that in the Eastern Province of Saudi Arabia and is very different from that in populations of West African origin.
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PMID:Sickle cell disease in Orissa State, India. 243 Jan 54

The pattern of initial clinical symptoms and signs developing in a representative sample of 305 children with homozygous sickle cell (SS) disease diagnosed at birth was analyzed. Specific symptoms were present by age 6 months in 6% of the group, and had developed by the first to eighth birthdays in 32%, 61%, 78%, 86%, 90%, 92%, 94%, and 96%, respectively. Inclusion of nonspecific symptoms in the analysis led to earlier recognition by a mean of 3 months in the first year and by a mean of approximately 1 year between the ages of 2 and 4 years. Dactylitis was the most common initial symptom, noted in 40% of the group overall and in 50% in the first 2 years. Painful crisis was the first symptom in more than one fourth of the patients and was the most frequent symptom after the age of 2 years. Acute splenic sequestration led to presentation in one-fifth of the group overall and in one third of patients younger than 2 years. The most common nonspecific symptom was pneumonia. There was a significant trend of earlier presentation in children with low fetal hemoglobin levels. The age at presentation did not appear to be affected by alpha-thalassemia status.
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PMID:Clinical presentation of homozygous sickle cell disease. 258 6

Melioidosis is an infection of humans and animals caused by a gram-negative motile bacillus, Pseudomonas pseudomallei. Forty-nine patients with melioidosis complicating diabetes mellitus, collagen vascular disorders, leukemia/lymphoma, and other hematologic malignancies are described. Twenty-nine of these patients had disseminated/septicemic infection, two developed toxic shock syndrome, and one with AIDS experienced recrudescent melioidosis. Patients with disseminated melioidosis often have a variety of defects in cellular immunity both in vitro and in vivo. In humans with recrudescent melioidosis, cellular immunity can be transferred by a transfer factor and by levamisole, a cellular immunopotentiating agent. The results of the treatment of our patients with disseminated/septicemic melioidosis with antimicrobial agents in combination have been successful. In recent years, four cases of fungal arteritis due to Pythium species and one case of keratitis due to Pythium were seen. Almost all patients with fungal arteritis had thalassemia; all presented with pain in the lower extremities and gangrenous lesions of the toes. Pythium species, an aquatic Phycomycetes, was identified in these cases as a human pathogen on the basis of clinical features, pathologic findings, and--of greatest importance--the isolation of the etiologic fungi. These five cases with remarkably similar presentations exhibited certain similarities with and differences from cases of mucormycosis, entomophthoromycosis, and peniciliosis.
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PMID:Tropical disease in the immunocompromised host: melioidosis and pythiosis. 260 81

A series of fifty patients presenting ischemic heart disease are studied. As shown by the electropherogram, apart from the basic band of hemoglobin A2, an additional weaker band appears with a diffuse zone between them. The quantity of the entire HbA2-diffuse zone exceeds by 3.8 per cent the total hemoglobin. Its appearance is not attributed to abnormal hemoglobin or beta-thalassemia. With the passing of time its quantity shows a decrease, and within 3-6 days it disappears. Parallel to normalization of the hemoglobin profile the pain syndrome among patients with unstable stenocardia subsides, and stabilization of the patients with a history of myocardial infarction takes place.
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PMID:Electrophoretic HbA2 assessment in ischemic heart disease. 261 36


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