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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]
  • Enhance your cardiac imaging skills with a video library demonstrating imaging of the normal heart, and the imaging presentation of more than 100 different fetal heart problems.[books.google.de]
  • 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]
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]
Negativism
  • Unter Verwendung des 1,51-fachem Medianwerts (MoM) der SPA-PSV als Diskriminationswert lag die Sensitivität, Spezifizität, der positiv prädiktive Wert und der negativ prädiktive Wert der SPA-PSV zur Identifikation von betroffenen Feten bei 84,4 % (32[thieme-connect.com]

Workup

  • Clinical Testing and Workup Physicians will take a blood sample from individuals suspected of having one of the alpha thalassemia conditions. Several different tests can be performed on a single blood sample.[rarediseases.org]
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]
  • Prognosis For silent carriers and individuals with alpha thalassemia trait, the prognosis is excellent. For individuals with HbH disease, the overall survival rate varies but is generally good, with most patients surviving into adulthood.[emedicine.medscape.com]
  • Prognosis Prognosis, as noted above, depends on the type and severity of the disease. Individuals with severe disease may be stillborn or die shortly after birth.[healthofchildren.com]

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]
  • We are grateful to the late Frank Livingstone for his invaluable global database of epidemiological studies. Funding: Bernadette Modell is a retired Wellcome Principal Research Fellow.[who.int]
  • 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]
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]
  • Get comprehensive coverage of cardiac anatomy, pathophysiology, natural history and disease management.[books.google.de]
  • 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]

Prevention

  • 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]
  • Prevention is making only a small impression: affected birth prevalence is estimated at 2.55 per 1000.[who.int]
  • A reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues.[icdlist.com]

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