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)

There has been a near doubling of the mean age (10.7 to 19.0 years) of Yale-New Haven Hospital patients with transfusion-dependent homozygous beta thalassemia between 1973 and 1994. This change is, in part, a result of improved transfusion procedures and effective chelation therapy with deferoxamine mesylate. A concomitant trend has been a decrease in the number of births of new cases resulting in fewer thalassemia major patients less than 10 years of age in 1985 and 1994 compared to a decade earlier. Identification of individuals at risk of having children with thalassemia major by extensive screening for heterozygous thalassemia and the availability of prenatal diagnosis may have contributed to this change. Thalassemia major has become a disease of adolescents and young adults. The increasing age has resulted in "new" issues in thalassemia major patients such as sexuality and marriage as well as economic problems involving health-care insurance and employment.
Conn Med 1994 May
PMID:Thalassemia major in Connecticut: a 20-year study of changing age distribution and survival. 807 56

To assess the impact of newborn screening (NBS) on the mortality of children with sickle cell anemia, we analyzed the Connecticut death certificates of all children less than 15 years old at death. We compared sickle cell-related deaths in three periods: 1970-1988 when there was no state NBS; between 1988 and 1990 when there was limited state NBS; and 1990-2002 when universal NBS was in effect in Connecticut. In the period 1988-2002, we identified all death certificate records in which sickle cell anemia was listed as a cause of death and compared these with children who were shown to have sickle cell anemia (Hb SS and sickle-beta(o) thalassemia) by the state's NBS programs. In the 11-1/2 years after universal NBS was initiated in Connecticut in 1990, there were no reported deaths among infants diagnosed at birth with Hb SS or sickle-beta(o) thalassemia. In the 18 years before any State NBS (1970-1988) there were 13 deaths attributed to sickle cell diseases. The limited State NBS program conducted between 1988 and July 2000 missed testing five affected children who subsequently died. These results document a marked reduction in mortality since the introduction of NBS for hemoglobinopathies and suggest that the Connecticut NBS program, coupled with comprehensive follow-up care, greatly reduced mortality.
Conn Med 2007 Jan
PMID:Newborn screening coupled with comprehensive follow-up reduced early mortality of sickle cell disease in Connecticut. 1728 99

Inherited alpha-thalassemia genotypes have been shown to have a rather high prevalence in some patient populations of African heritage. These genotypes lead to mild anemia with microcytic indices and a normal hemoglobin electrophoresis. In our outpatient department, we analyzed 54 consecutive patients of African descent with longstanding microcytic anemia, but no evidence of iron deficiency. We detected alpha-thalassemia gene deletions in 94 percent of these patients. Alpha-thalassemia genetic testing appears cost-effective in an otherwise unexplained, longstanding microcytic anemia in patients of African origin.
Conn Med
PMID:Alpha-thalassemia genetic testing: an important anemia diagnostic tool in patients of African heritage. 2118 14

The history and physical examination skills are being replaced by the tools of technology in establishing the actual cause of illness. We present a patient where the history and physical examination were essential in establishing the diagnosis. A 28-year-old female presented to the Emergency Department (ED) with an acute episode of epigastric pain radiating to the back associated with vomiting. Laboratory examinations revealed pancreatitis, imaging showed gallstones and the patient was admitted with the diagnosis of gallstone pancreatitis. A more detailed history and physical examination, however, was notable for a family history of "Mediterranean blood" and abdominal examination demonstrated splenomegaly and laboratory examination showed a microcytic anemia. The recognition of the family history, splenomegaly and microcytic anemia led to the diagnosis of thalassemia as the cause of the gallstone pancreatitis. Clearly, the history was essential in establishing the underlying cause of the problem.
Conn Med
PMID:Back to the basics. 2324 63