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Hemoglobin D Disease


Presentation

  • Hemoglobin S in moderate amounts can mean that sickle cell trait is present. Hemoglobin S in high amounts means sickle cell disease. Hemoglobin C in low amounts can mean that hemoglobin C trait is present.[cigna.com]
  • Here we present a case of homozygous Hb D with alpha 3.7kb deletion and phenotypic effect on patients.[rossscience.org]
  • Aim : Present study describes the clinical and hematological findings of 3 patients. Material and Methods : This was an observational study conducted between August, 2014 to July, 2015 in Department of Pathology of Nepalgunj Medical College.[nepjol.info]
Asymptomatic
  • Hemoglobin C: about 2-3% of African Americans in the United States are heterozygotes for hemoglobin C (have one copy, known as hemoglobin C trait) and are often asymptomatic.[labtestsonline.org]
  • She had two sisters who showed similar clinical findings, while her parents, who are cousins, were asymptomatic. Results The laboratory results are shown in Table 1.[annsaudimed.net]
  • (draw punnett square) SD disease is similar to Sickle cell Disease They can have severe hemolytic anemia (when they are asymptomatic the Hb D is usually a different variant) May have enlarged spleen, periods of severe pain called crisis, and often require[en.wikibooks.org]
  • To identify variants in asymptomatic parents who have an affected child Diagnosis To detect and/or identify hemoglobinopathy ( hemoglobin abnormality or thalassemia ) in those with symptoms of unexplained anemia or abnormal results on a complete blood[labtestsonline.org]
  • Hb O Arab heterozygotes are asymptomatic, and homozygous individuals have hemolytic anemia with febrile illnesses.[clinchem.aaccjnls.org]
Severe Pain
  • (draw punnett square) SD disease is similar to Sickle cell Disease They can have severe hemolytic anemia (when they are asymptomatic the Hb D is usually a different variant) May have enlarged spleen, periods of severe pain called crisis, and often require[en.wikibooks.org]
  • ., sickle cell disease ) may result in serious signs and symptoms, such as episodes of severe pain, shortness of breath, enlarged spleen, and growth problems in children.[labtestsonline.org]
  • Inheritance of 2 β S alleles, sickle cell anemia (S/S disease), is debilitating, with severe pain crises, increased susceptibility to infection, cerebrovascular events, and chronic organ damage.[clinchem.aaccjnls.org]
  • Some examples include: Weakness, fatigue Lack of energy Jaundice Pale skin (pallor) Some serious signs and symptoms include: Episodes of severe pain Shortness of breath Enlarged spleen Growth problems in children Upper abdomen pain (due to stone formation[labtestsonline.org]
Turkish
  • There was also a period of Turkish rule in this region.[annsaudimed.net]
  • .: Haemoglobin S-D disease in a Turkish family. Scand. J. Haemat. 7 , 10–14 (1969) Google Scholar 11. Ratcliff, R. G., Wolf, M.: Avascular necrosis of the femoral head associated with sickle cell trait (AS hemoglobin). Ann. Int.[link.springer.com]
  • Sickle/beta-thalassemia is the most common sickle syndrome seen in people of Mediterranean descent (Italian, Greek, Turkish). Beta-thalassemia is quite common in this region, and the sickle cell gene occurs in some sections of these countries.[sickle.bwh.harvard.edu]
Hypoxemia
  • Cannon Normal levels of 2, 3 diphosfoglicerate in red cells despite severe hypoxemia of chronic lung disease Chest, 61 (1972), pp. 25 S [15.] L.J. Fairweather, J. Walker, D.C.[archbronconeumol.org]
Respiratory Insufficiency
  • Summary The authors have studied the modifícation of the affinity of Hb for O 2 in 25 patients with chronic obstruction of airways in respiratory insufficiency (P a O 2 61 mmHg.) with a pH not inferior to 7.33.[archbronconeumol.org]
Learning Difficulties
  • Jump to navigation Jump to search Hemoglobinopathy Screening and Hemoglobin D-Punjab Family History [ edit ] Some of the things I'm looking for in your family history include: Birth defects History of pregnancy losses learning difficulties or MR chronic[en.wikibooks.org]

Treatment

  • In this article, we report hematopoietic stem cell transplantation as an alternative treatment in children with high-risk factors.[ncbi.nlm.nih.gov]
  • Occasionally blood transfusions Treatment varies depending on the symptoms and their severity. Some people do not need treatment. When treatment is needed for hemoglobin S-C disease, it is similar to that of sickle cell disease.[merckmanuals.com]
  • Whereas S/C disease is usually mild and normally does not require invasive treatments before 20 years of age, S/O Arab disease is a severe sickling disorder, and patients often receive treatment similar to those with S/S disease.[clinchem.aaccjnls.org]
  • Kolkata, West Bengal, India Disclaimer : The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment.[practo.com]
  • Infants with variants such as Hb S can benefit from early detection and treatment.[labtestsonline.org]

Prognosis

  • Predicting Prognosis in Chronic Lymphocytic Leukemia in the Contemporary Era. JAMA Oncol. 2015 ; 1 (7) : 965-74. (レビュー) 12)Schnaiter A, et al.[jshem.or.jp]

Epidemiology

  • Epidemiology of hemoglobinopathies and thalassemias in individuals referred to the haematology research centre, Shiraz University of Medical Sciences, Shiraz, Iran from 2006 to 2011. Hemoglobin 2014;38:287-8. [ PUBMED ] 7.[ajts.org]
Sex distribution
Age distribution

Pathophysiology

  • […] clinicians expect a more severe disease course in S/O Arab disease, treatment may be more readily escalated to the use of hydroxyurea compared with S/C disease, which typically features fewer and more mild complications, particularly before 20 years of age. pathophysiology[clinchem.aaccjnls.org]

Prevention

  • Centers for Disease Control and Prevention. Available online at . Accessed May 2017. (2016 August 31). Sickle cell disease, data and statistics. Centers for Disease Control and Prevention. Available online at . Accessed May 2017.[labtestsonline.org]
  • Since there is no clinical information on the management of this type of cases, we decided to use the same prevention that we use in patients with a sickle cell disease.[learningcenter.ehaweb.org]
  • Prevention of Thalassemias and Other Haemoglobin Disorders. 1 st ed., Vol. 2. Nicosia: Team Up Creations; 2005. 12. Keren DF, Hedstrom D, Gulbranson R, Ou CN, Bak R.[ajts.org]
  • Jude Children's Research Hospital Sickle Cell Kids Quiz Centers for Disease Control and Prevention Sickle Cell Disease Association of America MSDH Newborn Screening: Genetic Counseling Questions & Answers Mississippi Sickle Cell Foundation Cure Sickle[msdh.state.ms.us]

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