Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The first reported case of hereditary spherocytosis (HS) and glucose-6-phosphate dehydrogenase deficiency in a black is presented. The recent literature is reviewed, with emphasis on the frequency of multiple inherited RBC defects in this ethnic group. Despite a coexisting hemoglobinopathy or enzyme deficiency, HS can be diagnosed in most cases by the peripheral blood smear, osmotic fragility curve, and family history. The implications of the double RBC abnormality are discussed, stressing the importance of splenectomy in relieving the hemolytic component due to spherocytosis.
JAMA 1977 Feb 21
PMID:Hereditary spherocytosis and glucose-6-phosphate dehydrogenase deficiency. 57 20

The strategic advantages of neonatal diagnosis of sickle hemoglobinopathies depend on an accurate cord blood screening procedure. One hundred thirty-eight black children in whom a range of normal and abnormal hemoglobin genotypes was identified by agar gel and cellulose acetate hemoglobin electrophoresis at birth were retested by cellulose acetate three to five years later. The original cord blood diagnoses were verified in all 138, including all 26 with major sickle syndromes (SS, S-beta thalassemia, and SC). Cord blood hemoglobin electrophoresis using these techniques permits accurate neonatal diagnosis of major and minor sickle hemoglobinopathies.
JAMA 1979 Feb 02
PMID:Accuracy of cord blood screening for sickle hemoglobinopathies. Three- to five-year follow-up. 75 62

Human red blood cells (RBCs) are subject to an enormous degree of genetic diversity. The variability that occurs may result in anemia, cyanosis, polycythemia, or may cause no hematologic alterations. Genetic abnormalities affecting hemoglobin include the sickling disorders, the unstable hemoglobinopathies, hemoglobinopathies associated with polycythemia or with methemoglobinemia, and the alpha- and beta-thalassemias. The most common enzymatic abnormality of RBCs is glucose-6-phosphate dehydrogenase deficiency, but defects of many other enzymes leading to hemolytic anemia have been identified. Deficiences of RBC enzymes may also be important in the diagnosis of nonhematologic disease and in the evaluation of dietary status.
JAMA 1975 Sep 15
PMID:Genetic disorders of human red blood cells. 117 73

Sickle cell anemia and other hemoglobinopathies represent a major health problem in the United States. In April 1987 several federal agencies sponsored a National Institutes of Health Consensus Development Conference to discuss the issues involved in diagnosing and treating some of the major hemoglobinopathies in infants. This report summarizes the consensus panel's answers to the following questions considered by the conference participants: 1) are newborn screening programs for sickle cell anemia effective in reducing morbidity and mortality?, 2) what are the current screening techniques and their efficacies?, 3) what are the risk/benefit considerations in newborn screening programs?, 4) once infants with hemoglobinopathies have been identified, what are the optimal follow-up and management strategies?, and 5) what directions should research follow?
JAMA 1987 Sep 04
PMID:Consensus conference. Newborn screening for sickle cell disease and other hemoglobinopathies. 362 4

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