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Sickle Cell - Beta-Thalassemia

HbS-Beta-Thalassemia Syndrome


Presentation

  • Sixty hours after presentation, he developed pain similar to that of sickle cell vaso-occlusion, for which he received small amounts of analgesics. He died approximately 84 hours after presentation.[ncbi.nlm.nih.gov]
  • Three beta-thalassemia alleles (IVS-I-110, G-- A; codon 39, C-- T; IVS-I-6, T-- C) were present in nearly 85% of the beta-thalassemia alleles; their frequencies were intermediate between those observed in the populations of neighboring countries.[ncbi.nlm.nih.gov]
  • The latest data on research and developments will be presented.[prnewswire.com]
  • We conclude that patients with S-beta thal, like sickle-cell anemia patients, present multiple abnormalities of renal function.[ncbi.nlm.nih.gov]
  • Diagnosis [ edit ] Patient may present with symptomatic anemia or with sickle crises.[en.wikipedia.org]
Severe Clinical Course
  • One SB0 case with exceptionally high HbF (32 per cent) with severe clinical course was found. In this case, the high HbF did not ameliorate the clinical severity. Heterogeneity in each type of sickle cell/beta-thalassemia is discussed.[ncbi.nlm.nih.gov]
Polyuria
  • Polyuria, hyposthenuria and mild proteinuria were common in both S/b thai and SS patients. A renal concentrating defect was manifest in all patients studied, and in 4 of the 7 S/b thai patients tested, an abnormal acidification test was found.[karger.com]
Renal Impairment
  • Osteoporosis patients had mild renal impairment and their BMD correlated with osteoprotegerin, and bone resorption markers.[haematologica.org]

Workup

  • Medical Workup: The initial laboratory test to screen for sickle cell disease/trait is a Sickledex ; if positive then hemoglobin electrophoresis is required. Hb AS , with Hb S up to 45 % is acceptable for flying duties.[asams.org]
Microalbuminuria
  • Four had mild proteinuria, and six had microalbuminuria. Serum EPO and aldosterone were higher in S-beta thal patients than controls, but there was no difference in PRA between the two groups.[ncbi.nlm.nih.gov]
Hyperuricosuria
  • One third of the S/b thai patients showed hyperuricosuria, and a statistically significant negative correlation was noted between serum uric acid and its fractional excretion in all S/b thai patients (n 41, r -0.450, p 0.01).[karger.com]

Treatment

  • For a period of 52 months prior to starting treatment, the total score of severity for 59 evaluable patients was 1182 points (3068 patient-weeks), while for the 12,018 patient-weeks of the trial this parameter fell to only 82 points.[ncbi.nlm.nih.gov]
  • This could lead to a treatment for sickle cell disease and beta thalassemia, both diseases in need of safer and more effective treatments. The results were presented at the 54th annual meeting of the American Society of Hematology (ASH).[fiercebiotech.com]
  • Beta Thalassemia Treatment & Management: Approach Considerations, Surgical Treatment 2015 In-text: (Advani, 2015) Your Bibliography: Advani, P. (2015). Beta Thalassemia Treatment & Management: Approach Considerations, Surgical Treatment.[citethisforme.com]
  • [ edit ] Treatment is the same as for patients with sickle cell disease.[en.wikipedia.org]
  • In the United States and other countries with new-born screening programs, the disease may be identified in neonates. [4] Diagnostic tests include DNA sequencing, hemoglobin electrophoresis, and high-performance liquid chromatography. [5] Treatment Treatment[wikiwand.com]

Prognosis

  • It is associated with a poorer prognosis. Hemoglobin SD, hemoglobin SE, and hemoglobin SO These types of sickle cell disease are more rare and usually don’t have severe symptoms.[healthline.com]
  • However, in some cases the symptoms of beta-zero thalassemia are worse than those seen in homozygous sickle cell disease and is often associated with a poor prognosis.[hinapatelfoundation.org]
  • And the doctor briefs us regularly about this report and from this, we are hopeful that his prognosis is well.[healthtalk.org]

Etiology

  • The relationship between these etiologic factors and indications for transfusions are discussed.[ncbi.nlm.nih.gov]

Epidemiology

  • NCT00972231 15 Sickle Cell Anemia in an Arab Bedouin Village in the Northern Israel Completed NCT00481039 16 CD34 (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation Recruiting NCT01966367 Early Phase 1 17 Epidemiology[malacards.org]
  • References Modell B, Darlison M (2008) Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ 86: 480-487. Fucharoen S, Weatherall DJ (2012) The Hemoglobin E Thalassemia’s.[omicsonline.org]
  • Author information Affiliations Non-Communicable Disease Program, Ministry of Health, Kingdom of Saudi Arabia Nasser AbdulRahman AlHamdan & Fahad Mohammad AlSwaidi Field Epidemiology Training Program, and Ministry of Health, Kingdom of Saudi Arabia Nasser[nature.com]
Sex distribution
Age distribution

Pathophysiology

  • More studies are needed to better define the contribution of hemostatic activation to the pathophysiology of SCD and beta-thalassemia.[eurekaselect.com]
  • Other pathophysiological mechanisms that contribute to the SCD phenotype are vaso-occlusion and activation of the immune system. SCD is characterized by a remarkable phenotypic complexity.[natureasia.com]
  • […] chain, which produces a hemoglobin tetramer (alpha2/beta S2) that is poorly soluble when deoxygenated. 3 The polymerization of deoxy hemoglobin ( Hb ) S is essential to vasoocclusive phenomena. 3 However, polymerization alone does not account for the pathophysiology[asams.org]

Prevention

  • The use of hydroxyurea for the prevention of sickle cell crises in patients with homozygous HbS disease is now well established.[ncbi.nlm.nih.gov]
  • Early treatment helps to prevent serious and life threatening health problems such as: complicated infections organ damage stroke[newbornscreening.on.ca]
  • Abstract This study evaluated the efficacy of hydroxyurea treatment in the prevention of vaso-occlusive crises among children and teenagers with severe sickle cell anemia and sickle cell beta-thalassemia.[ncbi.nlm.nih.gov]
  • Literatur Angastiniotis MA, Hadjiminas MG (1981) Prevention of thalassaemia in Cyprus. Lancet: 369–371 Google Scholar Angastiniotis M, Modell B, Englezos P, Boulyjenkov V., Prevention and csontrol of maemoglobinopathies.[link.springer.com]
  • Centers for Disease Control and Prevention (CDC) National Heart, Lung and Blood Institute Sickle Cell Disease Association of America[marchofdimes.org]

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