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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

beta Thalassemia (Thal) mutations were studied in DNA from 80/159 patients with hemolytic anemia and high levels of Hb A2 by the amplification refractory mutation system technique (ARMS-PCR). This method detects point mutations and insertions or deletions of just a few nucleotides in the beta globin gene by the polymerase chain reaction of allele-specific priming. In 43/80 patients with different clinical presentations of beta Thalassemia and 37/80 compound heterozygous for hemoglobinopathies and beta Thalassemia the most frequent mutation found was the -29 (of African origin), followed by the CD39 (of Mediterranean origin) and in a lower frequency also was found the -88, the IVSI-6 and the IVSI-110. We conclude that this technique is an useful approach in determining the beta thalassemia mutations in population surveys, because it allows to make a differential diagnosis between beta Thalassemia minor and individuals with high levels of Hb A2. It helps to clarify the diagnosis of patients with structural hemoglobinopathies that also presents high levels of Hb A2.
Invest Clin 1999 Sep
PMID:[Detection of beta thalassemia by the technique of refractory amplification of mutation systems (ARMS-PCR)]. 1053 53

Haemoglobinopathies are the commonest autosomal recessive diseases in men. Mutations on the alpha and beta genes clusters, located on chromosome 16 and 11 respectively, have been strongly selected in many populations by the increased chance of survival of carriers in areas infested with malaria tropica. Unfortunately many of these mutations in homozygous or compound heterozygous forms generate severe phenotypes such as sickle cell disease and beta-thalassaemia major. The population at risk for haemoglobinopathies is increasing in the industrialized areas of northern Europe. Without preventive measures a cumulative number of 1,000 severely affected patients can be expected in the Netherlands if information and carrier diagnostics are not efficiently offered at the GP level. A specialized laboratory for postnatal and prenatal diagnosis has been available in Leiden for more than 10 years now; however, couples at risk are only sporadically referred for counselling and/or prenatal diagnosis.
Ned Tijdschr Geneeskd 2000 Sep 30
PMID:[From gene to disease; from hemoglobin genes to thalassemia and sickle cell anemia]. 1115 63

Oxyhemoglobin dissociation curves measure the most important function of red blood cells - the affinity for oxygen and its delivery to the tissues. This function may be deranged in sickle cell anemia and some other hemoglobinopathies. An automated oxyhemoglobin dissociation curve analyzer constructed dissociation curves in 55 patients with hemoglobinopathies and in 24 control subjects while maintaining constant temperature and pH. Sigmoid curves were converted to rectilinear ones using the Hill equation. Oxygen affinity of red cells was assessed by calculation of P50 (the PO2 at which hemoglobin is half saturated). Results revealed separation of oxyhemoglobin dissociation Hill plots according to phenotype but with wide variability. Mean oxygen affinity of fetal hemoglobin was greatest, whereas that of sickle hemoglobin was least. Other hemoglobins were intermediate. A positive correlation between decreased oxygen affinity and carboxyhemoglobin confirmed the decreased oxygen affinity of sickle hemoglobin and decreased oxygen affinity and increased diphosphoglycerate in red cells. Hill plots are less sensitive discriminators of oxygen affinity than traditional sigmoid dissociation curves and offer no particular advantage. Serial studies in a subset of three sickle cell anemia patients treated conservatively suggest automated oxyhemoglobin dissociation curves may be useful in assessment of effectiveness of newer therapies of sickle cell anemia after refinement of the method and studies of larger populations.
J Natl Med Assoc 2000 Sep
PMID:Automated oxyhemoglobin dissociation curve construction to assess sickle cell anemia therapy. 1105 56

Eight thousand seven hundred and thirty-six pregnant women were screened for thalassemia and hemoglobinopathies by mean corpuscular volume less than 80 femtolitres (fl). Three thousand six hundred and seventy women (42%) were MCV less than 80 fl. In this group there were 2,390 women (70%) who had positive Hb typing by high performance liquid chromatography (HPLC) such as beta-thalassemia major, beta-thalassemia hemoglobin E disease, beta-thalassemia trait, heterozygous and homozygous hemoglobin E, alpha-thalassemia-1 trait and hemoglobin H disease and 77% of their partners came and had hemoglobin typing done. Seventy-five couples at risk for having severely affected thalassemia fetuses were detected from this screening program. Prenatal diagnosis was performed in 58 couples (77.3%). Eight affected fetuses were detected. All pregnancies with affected fetuses except one with beta-thalassemia/HbE were terminated. There were 3 fetal losses (6%) as the result of prenatal diagnosis procedure.
Southeast Asian J Trop Med Public Health 2000 Sep
PMID:Prevention and control of thalassemia in Ramathibodi Hospital, Thailand. 1128 21

The American Academy of Pediatrics (AAP) recommends screening for anemia between the ages of 9 to 12 months with additional screening between the ages of 1 and 5 years for patients at risk. The screening may be universal or selective depending on the prevalence of iron deficiency anemia in the population. Improved infant rearing practices-including wider availability, acceptance, and use of iron-fortified formulas; iron fortification of foods; and increased awareness of the importance of dietary iron supplementation especially early in life-have lead to significant decline in the incidence of anemia in the first year of life. However, incidence of iron deficiency and ensuing anemia in children between 1 and 2 years continues to be significant and an important issue. Although iron deficiency may develop soon after cessation of or inadequate iron intake, anemia secondary to iron deficiency develops gradually over a period of several weeks to months. For children who have received/are receiving iron-fortified infant formulas and foods, hemoglobin screening at 9 to 12 months of age is inappropriate as there may not have been sufficient time to develop anemia, despite the rapid growth rate at this age. Widespread implementation of hemoglobin electrophoresis included in the neonatal metabolic screening programs in many states in the United States now has resulted in earlier diagnosis of hemoglobinopathies. Screening children at 9 to 12 months of age for hemoglobinopathies is somewhat redundant now. Screening for anemia before or around 1 year of age should continue to be important for communities and children at risk. Universal screening of toddlers at a later time allows sufficient time for nutritional anemia to become evident after the child has been weaned off iron-fortified formulas, for the influence of toddler dietary fads to manifest, and for evaluation of tolerance of cow's milk protein. This may be addressed via 2 approaches. The first involves postponing the currently recommended screening or an additional screening for anemia between 15 to 18 months of age. Determination of hemoglobin (or hematocrit) is not the optimal way to identify children at risk from effects of iron deficiency as it fails to identify patients who are iron-deficient but are not anemic. Long-term psychomotor, behavioral, and developmental effects secondary to iron deficiency anemia are known but sufficient data are lacking regarding the role of iron deficiency without anemia. Development and evaluation of sensitive, specific, and cost-effective screening tools to identify children at risk for iron deficiency is important. Until such methods are instituted, the AAP should emphasize and recommend universal screening for anemia during the second year of life.
Pediatrics 2001 Sep
PMID:Screening for anemia in children: AAP recommendations--a critique. 1153 74

Haemoglobinopathies including alpha- and beta-thalassaemia are the world's most common class of single gene disorder. Prenatal diagnosis (PND) for beta-thalassaemia has been proven to be an effective strategy for controlling the incidence of new cases and is widely used in several countries where the disease is common. Successful preimplantation genetic diagnosis (PGD) protocols for beta-thalassaemia have been introduced using restriction fragment length polymorphism (RFLP), single-stranded conformation polymorphism (SSCP) and denaturing gradient gel electrophoresis (DGGE). However, contamination and allele dropout (ADO) remain an important concern for all of these strategies. In the present study two PGD protocols for detecting beta-thalassaemia mutations (codon 41-42 and IVSI-110) and one for alpha-thalassaemia (SEA mutation) have been designed and tested. These methods contain failsafe mechanisms to reduce the risk of misdiagnosis due to ADO or contamination and utilise multiplex fluorescent PCR (F-PCR). Interestingly, amplification efficiency and ADO were significantly affected by the choice of DNA polymerase and the freshness of the single cells used. The close similarity between the DNA sequences of beta-globin and delta-globin was also found to be an important issue that necessitated careful design of primers for the beta-globin gene.
Prenat Diagn 2001 Sep
PMID:Preimplantation genetic diagnostic protocols for alpha- and beta-thalassaemias using multiplex fluorescent PCR. 1155 12

Sickle cell anemia is a frequent hemoglobinopathy in the Caribbean. While vaso-occlusion induced tissue injury in sickle cell anemia is common in various organs, orofacial lesions are rare. A 14-year-old Afro-Trinidadian boy suffering from sickle cell anemia developed an acute facial swelling, mimicking facial cellulitis of dental origin, which was caused by sickle cell-related hemorrhage. He also exhibited gingival enlargement, considered to be an outcome of repeated hemorrhagic episodes and fibrous repair. A new finding is the presence of erythrocyte-filled intraepithelial blood vessels in the gingival epithelium. We hypothesize this phenomena is a tissue response to hypoxia that occurs in sickle cell disease.
Oral Dis 2001 Sep
PMID:Facial swelling and gingival enlargement in a patient with sickle cell disease. 1211 6

Beta-thalassemia minor is a hemoglobinopathy which has been known as a symptomless carrier state. Although there are many causes leading to renal tubular dysfunction, beta-thalassemia minor has not been reported among them in reviewing the literature. In a 20-year-old male patient referred to us because of glucosuria detected with dipstick, there was also anemia (hemoglobin, 11.5 g/dl; mean cell volume, 60 fl; and mean cell hemoglobin concentration, 19.5 pg). The 24-hour urinary glucose excretion rate was 5 g and, additionally, he had tubular proteinuria (albumin/beta(2)-microglobulin ratio in urine was 17.32). Based upon the detailed evaluation for both asymptomatic urinary abnormality and anemia, he was diagnosed as having renal tubular dysfunction and beta-thalassemia minor (hemoglobin A(1)was 91%, and hemoglobin A(2)was 9%). In conclusion, further reports are needed to reveal whether there is an association between these two distinct disorders.
Nephron 2002 Sep
PMID:Renal tubular dysfunction in a patient with beta-thalassemia minor. 1218 8

In developing countries, multiple comorbidities such as malnutrition, parasitoses, and hemoglobinopathies contribute to the aggravation of anemia observed in patients with end-stage renal diseases. We analyze here the results of a retrospective evaluation of red-cells indices and iron parameters conducted at the end of December 2000 in 304 prevalent Tunisian patients (sex ratio, 1.05; mean age, 53.7 years) receiving chronic hemodialysis for a median duration of 49.6 months (range, 1.6 to 278). Anemia, observed in 87.8% of patients, was normochromic and normocytic in 73% of cases. Only 2% of patients had microcytic and hypochromic anemia. Iron deficiency was observed in 21.6% of anemic patients. The mean rate of hemoglobin was significantly higher in men and in patients with polycystic kidney disease as the cause of renal failure. There was a positive correlation between hemoglobin values and the quality of dialysis. Only 10.8% of patients were on recombinant human erythropoietin (rHuEPO) and 38% required regular transfusions. We conclude that anemia observed in our patients had, in most cases, the characteristics of renal anemia and could be attributed to a deficit of renal production of erythropoietin. However, for financial reasons, prescription of rHuEPO is rather restrictive and blood transfusion remains largely used. The nephrology community and dialysis providers should increase their efforts to improve the anemia care of dialyzed patients in developing countries.
Artif Organs 2002 Sep
PMID:Anemia and end-stage renal disease in the developing world. 1219 29

We investigated the molecular basis of hemoglobinopathies and restriction fragment length polymorphism (RFLP) haplotypes in 58 unrelated Albanian patients. A wise heterogeneity was detected, characterized by 11 beta-thalassemia, 3 Hb variant and 4 alpha-globin alleles. All beta-thalassemia and Hb variant alleles were associated with the same haplotypes described in other populations. Genotype-phenotype correlation was established.
Haematologica 2002 Sep
PMID:Beta- and alpha-globin genotypes in Albanian patients affected by beta-globin gene disorders. 1221 13


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