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)

A Vietnamese couple were both carriers of alpha-thalessemia-1. The woman had a first pregnancy terminated in the delivery of a hydropic fetus due to homozygous alpha-thalassemia. The couple requested prenatal diagnosis for the second pregnancy. The DNA obtained from cultured amniotic fluid cells was studied pregnancy. The DNA obtained from cultured amniotic fluid cells was studied by hybridization with globin cDNA in solution and on filters (Southern technique). Both analyses demonstrated no alpha-globin structural genes were present. Following termination of the pregnancy, the diagnosis was established by the presence of only hemoglobins Barts (gamma 4) and Portland (zeta 2 gamma 2) in the fetal blood.
JAMA 1979 Apr 13
PMID:Prenatal diagnosis of homozygous alpha-thalassemia. 43 Jul 15

Of 18 nonblack patients with sickle cell disease, 14 had sickle cell anemia, 2 had hemoglobin SC disease, and 2 had hemoglobin S-beta o-thalassemia. The beta s gene cluster haplotypes that were determined in 7 patients were of African origin and were identified as Central African Republic, Central African Republic minor II, Benin, and Senegal. The haplotype Central African Republic minor II was present on the beta o-thalassemia chromosome in 2 patients. None of 10 patients whose alpha-gene status was determined had alpha-thalassemia-2. These data strongly support the concept that the beta s gene on chromosome 11 of these individuals is of African origin and that the alpha-gene locus on chromosome 16 is of white or native American origin. The clinical severity of the disease in these nonblack patients is appropriate to their haplotype without alpha-thalassemia-2 and is comparable with that of black patients. All persons with congenital hemolytic anemia should be examined for the presence of sickle cell disease regardless of physical appearance or ethnic background.
JAMA 1989 May 26
PMID:Nonblack patients with sickle cell disease have African beta S gene cluster haplotypes. 271 31

Persons with hemophilia are at risk of the acquired immunodeficiency syndrome (AIDS), and clinically asymptomatic hemophiliacs have shown a high incidence of AIDS-like immune abnormalities, facts leading to speculation that many hemophiliacs have been exposed to the AIDS agent through their blood products. We therefore evaluated the immune status of three groups of blood product recipients without AIDS in New York City, including 47 persons with hemophilia A receiving factor VIII concentrate, 50 persons with homozygous beta-thalassemia, and 27 persons with sickle cell anemia receiving frozen-packed RBCs and 20 healthy persons who had not received a transfusion. Hemophiliac participants had significantly lower lymphocyte counts (median, 1,826/cu mm) than did the thalassemic (6,110/cu mm) or anemic (4,443/cu mm) participants, had lower numbers of T-helper lymphocytes (median, 533 cells/cu mm v 1,733 cells/cu mm and 1,554 cells/cu mm), and had a lower T-helper/suppressor ratio (median, 0.8 v 1.8 and 2.1). These differences remained after adjustment for age and sex. Thus, AIDS-like immune abnormalities were found in patients receiving factor concentrate, but not in those receiving RBCs. These defects could be due to both an immunosuppressive effect of the lyophilized factor itself and to contact with the AIDS agent.
JAMA 1985 Feb 22
PMID:Immune status of blood product recipients. 391 87

The inactivated hepatitis B vaccine that was licensed in November 1981 will be distributed for general use later this year. Extensive studies have confirmed the safety, immunogenicity, and remarkable efficacy of this vaccine for the prevention of acute hepatitis B disease, asymptomatic infection, and the chronic hepatitis B carrier state. The vaccine is recommended for immunization of infants, children, and adults who are considered to be at increased risk of contracting hepatitis B infection. These population groups include medical, dental, laboratory, and other health care personnel, selected patients (eg, hemodialysis, thalassemia), clients and staff of institutions for the mentally disabled, homosexually active males, intimate contacts of carriers, users of illicit drugs, infants in high-risk areas, and other high-risk groups. The availability and appropriate use of the newly licensed hepatitis B vaccine should enable physicians to prevent a serious cause of acute and chronic liver disease.
JAMA 1982 Apr 09
PMID:The newly licensed hepatitis B vaccine. Characteristics and indications for use. 703 74

Thalassemias are common autosomal recessive disorders especially in populations of Mediterranean, Middle Eastern, and Far Eastern descent. Relatively high incidence is also observed in people of Asian Indian origin but the incidence is more limited in those of African descent. Beta Thalassemias are heterogeneous at the molecular level, with more than 150 different molecular defects identified to date. Despite this heterogeneity, each at-risk population has its own spectrum of common mutations, usually from 5 to 10, a finding that simplifies mutation analysis. Homozygosity for beta thalassemias usually results in transfusion-dependent thalassemia major and, rarely, in mild non-transfusion-dependent conditions. Molecular diagnosis may be used to define genotypes associated with mild forms. Advances in carrier diagnosis using hematologic analysis followed by mutation analysis have made possible the population screening of women at childbearing age and prenatal diagnosis. This approach in combination with nondirective genetic counseling has resulted in a consistent decline of the birth of affected homozygotes in several Mediterranean at-risk populations, as well as knowledge of the risks of being a carrier. Molecular diagnosis of homozygotes and identification of carriers of beta thalassemia may lead to improved clinical management of patients with the disorder and prevention of the birth of affected homozygotes.
JAMA 1997 Oct 15
PMID:Molecular diagnosis and carrier screening for beta thalassemia. 933 70

Sickle cell anemia and thalassemia constitute the most common genetic diseases in the world. Affected patients carry a heavy burden of morbidity and early mortality. With improved understanding of the pathophysiology and molecular basis of these diseases, treatment is evolving from management of symptoms to more effective strategies that aim to modify diseased red blood cells or replace them with normal cells. Available treatment options include red blood cell transfusions, pharmacologic interventions to increase fetal hemoglobin levels, and stem cell transplantation. Improvements in these approaches or the development of means to replace defective genes with normal ones using techniques of gene transfer offer hope for the future.
JAMA 2001 Feb 07
PMID:Prospects for research in hematologic disorders: sickle cell disease and thalassemia. 1117 73

Modern health care has greatly increased longevity for patients with congenital hemolytic anemias (such as sickle cell disease and thalassemia) and human immunodeficiency virus (HIV) infection. It is estimated that 10% of patients with hemoglobinopathies and 0.5% of patients with HIV infection develop moderate to severe pulmonary hypertension. Pulmonary hypertension is a relentlessly progressive disease leading to right heart failure and death. Worldwide, there are an estimated 30 million patients with sickle cell disease or thalassemia and 40 million patients with HIV disease. Considering the prevalence of pulmonary vascular disease in these populations, sickle cell disease and HIV disease may be the most common causes of pulmonary hypertension worldwide. In this review, the available data on epidemiology, hemodynamics, mechanisms, and therapeutic strategies for these diseases are summarized. Because therapy is likely to reduce morbidity and prolong survival, efforts to screen, diagnose, and treat these patients represent a global health opportunity.
JAMA 2008 Jan 23
PMID:Pulmonary hypertension: an increasingly recognized complication of hereditary hemolytic anemias and HIV infection. 1846 Jun 61