Three patients with a relatively mild form of beta O-thalassemia who did not require regular blood transfusions are described. Globin synthesis was studied by gel filtration and urea-carboxymethylcellulose chromatography of stroma-free hemolysates prepared from peripheral blood and bone marrow cells labeled in vitro with 14C-leucine. gamma/alpha Synthetic ratios in peripheral blood were in the same range as in patients with the severe clinical form of beta O-thalassemia, while gamma/alpha synthetic ratios in bone marrow cells were higher than in that group of patients. The size of the free alpha-chain pool measured in one case was smaller than in other patients with "classical" Cooley anemia. It is concluded that the severity of the clinical course in beta O-thalassemia does not correlate with the imbalance in alpha verus gamma chain synthesis in peripheral blood and is determined by the synthetic ratio in bone marrow cells, where the bulk of hemoglobin synthesis takes place.
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J Natl Med Assoc
February 2013
Department of Medicine, Duke Comprehensive Sickle Cell Center and Division of Hematology, Duke University, Durham, NC 27710, USA.
Kikuchi-Fugimoto's Disease (KFD), also known as histiocytic necrotizing lymphadenitis, is most frequently seen in young women and has been associated with autoimmune disorders such as polymyositis and systemic lupus erythematosus. It is generally a self-limiting disease with recovery time ranging from weeks to months. A typical presentation of KFD includes painful cervical lymphadenopathy, usually consisting of unilateral involvement of the posterior cervical chain.
View Article and Find Full Text PDFAnn Biol Clin (Paris)
September 2009
Fédération des laboratoires, Hôpital d'instruction des armées Clermont Tonnerre, Brest.
We describe the case of a Sickle Cell Trait associated with alpha and beta(o) thalassemia at an young man without clinical abnormality. Capillary electrophoresis showed S haemoglobin at 67%, F haemoglobin at 29%, A2 haemoglobin at 4% and an absence of A haemoglobin. Accurate diagnosis was found by techniques of molecular biology.
View Article and Find Full Text PDFEur J Pediatr
September 2009
Department of Molecular Medicine, University of Malaya, Lembah Pantai, Kuala Lumpur, Malaysia.
Introduction: Interactions of different hemoglobin variants with thalassemia alleles can result in various clinical phenotypes. HbE-beta-thalassemia generally manifests with severe anemia where individuals exhibit beta-thalassemia major with regular blood transfusions or beta-thalassemia intermedia with periodic blood transfusions. This study presents a unique Malay family with three beta-globin gene defects-HbE, Hb South Florida, and IVS1-1 (G-->A).
View Article and Find Full Text PDFConn Med
January 2007
Department of Pediatrics, Yale University School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA.
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.
View Article and Find Full Text PDFAnn Biol Clin (Paris)
October 2006
Laboratoire de Biochimie et Biologie Moléculaire, Hôpital Roger Salengro, CHRU, Lille.
We report the case of a 30 years old patient of Algerian origin, presenting a beta-thalassemia major with a phenotype of intermediate severity. Its genotype is beta(o)/beta(o), leading to a complete absence of beta-globin synthesis. This genotype is usually responsible for major clinical complications and a severe anaemia requiring regular transfusions.
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