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Hemoglobin Bart's Disease


Presentation

  • The present case suggests that sonographic identification of limb reduction defects may be a specific marker of hemoglobin Bart's disease at 10 weeks.[ncbi.nlm.nih.gov]
  • This study suggests that cardiomegaly from fetal anemia in early gestation is not associated with fetal cardiac injury or myocardial dysfunction but presents as cardiac volume overload from a compensatory process to maintain adequate tissue oxygenation[ncbi.nlm.nih.gov]
  • Hemoglobin H was not present in sufficient quantities to be detectable by hemoglobin electrophoresis.[nejm.org]
  • Liang ST, Wong VC, So WW, Ma HK, Chan V, Todd D: Homozygous alpha-thalassaemia: clinical presentation, diagnosis and management. A review of 46 cases. Br J Obstet Gynaecol 1985;92:680–684.[karger.com]
  • The degree of impairment is based on which clinical phenotype is present (how many genes are affected).[snpedia.com]
Family History of Anemia
  • Antenatal screening should be considered in these ethnic groups who have immigrated, especially in those with a family history of anemia.[clinicaladvisor.com]
Dermatitis
  • Pancreatic Cancer Leukopenia Reactive Leukocytosis Eosinophilia Blood Transfusion Heparin Induced Thrombocytopenia Renal Tubular Acidosis Acid-based Abnormalities Somatization Substance Abuse and Dependence General Approach to Dermatologic Disorders Dermatitis[books.google.de]
Eczema
  • Cancer Leukopenia Reactive Leukocytosis Eosinophilia Blood Transfusion Heparin Induced Thrombocytopenia Renal Tubular Acidosis Acid-based Abnormalities Somatization Substance Abuse and Dependence General Approach to Dermatologic Disorders Dermatitis and Eczema[books.google.de]

Workup

Anisopoikilocytosis
  • Peripheral smear shows target cells, teardrop RBCs, polychromasia, moderate anisopoikilocytosis, and basophilic stippling. Hemoglobin electrophoresis is normal in alpha thalassemia minima and minor.[clinicaladvisor.com]

Treatment

  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.de]
  • This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations.[books.google.de]
  • This text is divided into eight distinct sections, and includes coverage of the molecular and genetic basis of hemoglobinopathies and thalassemias, their epidemiology and genetic selection, and the diagnosis and special treatments of D*b and D*a thalassemias[books.google.com]
  • Effectively monitor the pace of drug clearing in patients undergoing pharmacogenomic treatments with a new chapter on this groundbreaking new area.[books.google.de]
  • For the more severe forms of thalassaemia, modern treatment gives a good outlook, but lifelong monitoring and treatment are needed. Good treatment is important to prevent complications developing.[patient.info]

Prognosis

  • Prognosis The prognosis for carriers of silent alpha-thalassemia or alpha-thalassemia trait is very good. Neonates with Hb Bart's hydrops fetalis usually die in the perinatal period.[orpha.net]
  • Prognosis Prognosis has greatly improved with early detection and improvements in treatment and management. Patients are already surviving into their 40s and are expected to live beyond this age.[orpha.net]
  • Prognosis depends on the type of hemoglobin made which varies in different populations.[pediatriceducation.org]
  • Pain episodes, end-organ damage, and prognosis may be similar or perhaps even worse for bone and retinal disease when compared to homozygous sickle anemia.[sctpn.net]
  • With treatment, the outlook (prognosis) is good because anaemia and complications can be controlled by transfusions and chelation treatment.[patient.info]

Etiology

  • Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases.[books.google.de]
  • […] and multiple body system manifestations due to the underlying etiology.[icd10data.com]
  • Etiology BTHS is caused by mutations in the TAZ gene (tafazzin; Xq28) which encodes Taz1p acyltransferase involved in the metabolism of cardiolipin, a major phospholipid in inner mitochondrial membranes.[orpha.net]
  • Etiology Alpha globin synthesis is regulated by four alpha-globin genes, two on each copy of chromosome 16 (16p13.3). Alpha-thalassemia most frequently results from deletion of one or both alleles ( HBA1 and HBA2 ).[orpha.net]
  • Etiology Beta thalassemia In a normal cell, the β- globin chains are coded by a total of two alleles. Thus, there are two forms of the disease.[amboss.com]

Epidemiology

  • This text is divided into eight distinct sections, and includes coverage of the molecular and genetic basis of hemoglobinopathies and thalassemias, their epidemiology and genetic selection, and the diagnosis and special treatments of D*b and D*a thalassemias[books.google.com]
  • References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified. Etiology Beta thalassemia In a normal cell, the β- globin chains are coded by a total of two alleles. Thus, there are two forms of the disease.[amboss.com]
  • Summary Epidemiology Prevalence is estimated at 1/454,000 and incidence at 1/140,000 (South-West England, South Wales) to 1/300,000-1/400,000 live births (USA). BTHS affects male patients.[orpha.net]
  • Summary Epidemiology Like other globin gene disorders, alpha-thalassemia is highly prevalent in all tropical and subtropical regions (around 1/10,000), particularly in the African equatorial belt.[orpha.net]
  • EPIDEMIOLOGY The precise incidence of hydrops fetalis is difficult to elucidate, because many cases are not detected prior to intrauterine fetal death and some cases may resolve spontaneously in utero.[flipper.diff.org]
Sex distribution
Age distribution

Pathophysiology

  • It stands as the definitive work on the genetics, pathophysiology, and clinical management of this wide range of disorders. Drs.[books.google.com]
  • Notes "Pathophysiology of alpha thalassemia". www.uptodate.com. Retrieved 2016-08-30. F. P. van der Dijs, M. Volmer, D. G. van Gijssel-Wiersma, J. W. Smit, R. van Veen & F. A. Muskiet (September 1999).[ipfs.io]
  • Pathophysiology: Normal adult hemoglobin contains a tetramer of globin chains a 2 / b 2. Two conditions exist in the red blood cell when the alpha-globin synthesis decreases or is absent altogether.[www1.cgmh.org.tw]
  • Notes [ edit ] "Pathophysiology of alpha thalassemia". www.uptodate.com. Retrieved 2016-08-30. F. P. van der Dijs, M. Volmer, D. G. van Gijssel-Wiersma, J. W. Smit, R. van Veen & F. A. Muskiet (September 1999).[en.wikipedia.org]
  • […] alleles (--/-α) : results in excessive production of pathologically altered HbH Hemoglobin Bart disease (major form): four defective alleles (--/-‑) : results in excessive production of pathologically altered Hb Bart References: [4] [5] [6] [7] [8] Pathophysiology[amboss.com]

Prevention

  • BACKGROUND: All sonomarkers used to screen for fetal hemoglobin (Hb) Bart's disease need high expertise, preventing them from being widely used.[ncbi.nlm.nih.gov]
  • Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection.[books.google.de]
  • This treatment is really important for preventing complications.[patient.info]
  • In people with the characteristic features of alpha thalassemia , a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues.[ghr.nlm.nih.gov]
  • 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]

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