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Hemoglobin E-Thalassemia

Hemoglobin E Thalassemia Disease


Presentation

  • Clinical Features  One of the most striking features of HbE β thalassemia is its remarkable clinical heterogeneity  The condition may present as a mild, asymptomatic anemia or a life-threatening disorder that may lead to death from anemia in the early[slideshare.net]
  • Homozygous HbE is common in Southeast Asia and presents with very mild anemia, seldom requiring transfusion. Over 30 million people in the world are HbE carriers, making this abnormal hemoglobin almost as common as HbS.[labce.com]
  • Patients present with a moderate to severe microcytic anemia (average MCV 70 fl, Hgb 6 g/dl) and an increased reticulocyte count.[path.upmc.edu]
  • Gastrointestinal tract disturbances are the most common presenting symptoms (34.6%), especially abdominal pain (10%) and cholecystitis (5.1%).[journals.lww.com]
Family History of Anemia
  • A family history of anemia in the absence of iron deficiency should prompt consideration of a hemoglobinopathy, and a number of these appear in the differential diagnosis. Hemoglobin E is an inherited mutation in the ß-globin gene.[clinicaladvisor.com]
Abdominal Mass
  • Patients come to the hospital because of anemia, fever, abdominal mass, and jaundice. Gastrointestinal tract disturbances are the most common presenting symptoms (34.6%), especially abdominal pain (10%) and cholecystitis (5.1%).[journals.lww.com]

Workup

  • […] through this case report we would like to share our experience, namely, that if one's patient is a pregnant lady from the northeast part of India presenting with anemia even a small clue against iron-deficiency anemia in the history, examination, or workup[jmedsoc.org]
  • The tests that are ordered to search for haemoglobin variants are also used for thalassaemia workups. Searching for both is important because thalassaemia is sometimes inherited along with a haemoglobin variant.[labtestsonline.org.au]
  • Complications associated with beta thalassemia Complications associated with beta thalassemia, aside from the aforementioned anemia, are as follows (see Prognosis, Presentation, Workup, Treatment, and Medication ): Extramedullary hematopoiesis Asplenia[emedicine.medscape.com]
Microcytic Anemia
  • Patients present with a moderate to severe microcytic anemia (average MCV 70 fl, Hgb 6 g/dl) and an increased reticulocyte count.[path.upmc.edu]
  • In homozygotes, a mild microcytic anemia with prominent target cells exists. Diagnosis of hemoglobin E disorders is by hemoglobin electrophoresis. Most patients do not require treatment.[merckmanuals.com]
  • It is found primarily in Southeast Asia. rs33950507 (A) is associated with somewhat increased malarial resistance, and in homozygous (A;A) state, with mild hypochromic microcytic anemia.[ PMID 16114182 ] [ PMID 19087310 ] Microarray-based estimation of[snpedia.com]
  • Cooley's anemia was a fatal microcytic anemia of children of Mediterranean descent.[web2.iadfw.net]
  • In the heterozygous state, the beta thalassemia trait (ie, thalassemia minor) causes mild to moderate microcytic anemia. (See Etiology .)[emedicine.medscape.com]

Treatment

  • Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant.[icdlist.com]
  • In this population there is a very small difference between the steady-state hemoglobin levels between the mild and severe phenotypes, and it has been possible to stop transfusion in many of those who have been on long-term treatment of this kind.[rdm.ox.ac.uk]
  • I have a plan to go there for treatment. Hope to meet you then. Good Bye. Logged Jump to:[thalassemiapatientsandfriends.com]
  • 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]
  • It maintains a clinical focus while providing state-of-the-art diagnosis and treatment techniques.[books.google.com]

Prognosis

  • Introduction Thalassemia is a hemoglobinopathy which, in its more severe forms, has a quite poor prognosis.[nature.com]
  • Prognosis Individuals with thalassemia minor (thalassemia trait) usually have mild, asymptomatic microcytic anemia. This state does not result in mortality or significant morbidity.[emedicine.medscape.com]
  • The prognosis of homozygous Hb C disease is excellent. An individual may inherit a Hb S gene from one parent and a Hb C gene from the other. The result of this double whammy is Hb SC disease.[web2.iadfw.net]
  • Prognosis As discussed above, the prognosis for individuals with the most serious types of thalassemia has improved drastically in the last several years following recent medical advances in transfusion, chemo-, and transplantation therapy.[medical-dictionary.thefreedictionary.com]

Etiology

  • The etiology of this patient's anemia is most likely due to double heterozygosity for Hb E and beta thalassemia.[path.upmc.edu]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • (See Etiology .) Patients in whom the clinical severity of the disease lies between that of thalassemia major and thalassemia minor are categorized as having thalassemia intermedia.[emedicine.medscape.com]
  • He developed hemolytic anemia of unknown etiology at the age of six years. The father was of Chinese ancestry through one of his grandfathers.[scielo.org.mx]
  • REFERENCES 1 Etiologies, consequences, and treatment of iron overload . Crit Rev Clin Lab Sci 1994 ; 31 : 89 – 133 . 2 Inherited haemoglobin disorders: an increasing global health problem .[ajcn.nutrition.org]

Epidemiology

  • , Chiang Mai University, Chiang Mai, 5 Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, 6 Clinical Epidemiology Society at Chiang Mai, Chiang Mai, Thailand Objective: The aim of the research reported here[dovepress.com]
  • 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]
  • EPIDEMIOLOGY  Hemoglobin E beta-thalassemia (Hb E thalassemia) accounts for approximately half of all the cases of severe thalassemia in the world population.  Hb E thalassemia occurs widely throughout the eastern half of the Indian subcontinent, Bangladesh[slideshare.net]
  • Clinical Epidemiology Unit, Faculty of Medicine Ramathibodi Hospital, Mahidol University Bangkok Thailand[link.springer.com]
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]
  • Pathophysiology  The pathophysiology of HbE β thalassemia reflects both the reduced output of HbE together with the added globin-chain imbalance consequent on the coinheritance of β thalassemia  Globally, the intermediate forms of beta-thalassaemia[slideshare.net]
  • Pathophysiologic implications of membrane phospholipid asymmetry in blood cells. Blood . 1997;89:1121–11322. PubMed PubMedCentral Google Scholar 25. Borenstain-Ben Yashar V, Barenholz Y, Hy-Am E, Rachmilewitz EA, Eldor A.[link.springer.com]

Prevention

  • It appears therefore that the splicing process of βE -globin pre mRNA differs among HbE β -thalassemia patients and serves as one of the modifying factors for disease severity  A decrease of aberrantly spliced βE -globin mRNA levels prevent accumulation[slideshare.net]
  • Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention[aboutkidshealth.ca]
  • This helps scientists look for better ways to prevent and treat thalassaemia. You can opt out of the register at any time.[nhs.uk]

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