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]

Anisocytosis, poikilocytosis, and target cells were present in almost all cases. [jscisociety.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]

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]

• Pain

  Gastrointestinal tract disturbances are the most common presenting symptoms (34.6%), especially abdominal pain (10%) and cholecystitis (5.1%). [journals.lww.com]

  […] maternal medical disorders of fetal significance, seizure disorders, isoimmunization, cancer and mental disorders * maternal and fetal anesthesia and analgesia * prenatal genetic diagnosis * overview of clinical evaluation of metabolic disease * neonatal pain [books.google.com]

  However, adults with hemoglobin SE disease may experience complications including painful episodes, dysfunction of the spleen, and anemia. Like hemoglobin E trait, beta thalassemia trait and sickle cell trait can be identified by a blood test. [thalassemia.com]

  This can cause a lot of pain when your organs and muscles don’t get the oxygen they need. African-Americans have a higher risk of sickle cell anemia than people of other races. Hemoglobin C disease. [webmd.com]

• Weakness

  For example, you may feel weak, tire out more easily, and feel short of breath. Other symptoms also can occur depending on how severe your disease is and what problems it causes. [northshore.org]

  The main health problems associated with thalassaemia are: anaemia – severe tiredness, weakness, shortness of breath, pounding, fluttering or irregular heartbeats (palpitations) and pale skin caused by the lack of haemoglobin too much iron in the body [nhs.uk]

  We present a case of 27 years old primigravida who attended Obs and Gynae OPD at 27 weeks of gestation with complain of easy fatiguability, generalised weakness and breathlessness. [jmedsoc.org]

  Severe anemia develops and is associated with fatigue, weakness, shortness of breath, dizziness, headaches, and yellowing of the skin, mucous membranes and whites of the eyes (jaundice). [rarediseases.org]

  Also, this hemoglobin variant has a weak union between α- and β-globin, causing instability when there is a high amount of oxidant. [3] HbE can be detected on electrophoresis. [en.wikipedia.org]

• Fever

  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]

  The most common presentation of Hb E disease is no or mild anemia, jaundice, fever, abdominal pain and gastrointestinal disturbances with or without splenomegaly. [ijpmonline.org]

  Feeding problems, diarrhea, irritability or fussiness, recurrent fevers, abnormal enlargement of the liver (hepatomegaly), and the abnormal enlargement of the spleen (splenomegaly) may also occur. [rarediseases.org]

  I had a long period fever, allergic symptoms, large spleen, jaundice etc at 13 yrs old. I was diagonised hemolytic anemia(hereditary?) and transfused one bag of blood. After that i am under only homeo treatment. [thalassemiapatientsandfriends.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]

• Severe Pain

  […] and symptoms, such as episodes of severe pain, shortness of breath, enlarged spleen, and growth problems in children. [labtestsonline.org]

• Hepatosplenomegaly

  On examination, she had severe anaemia with hepatosplenomegaly and was admitted for further evaluation and was diagnosed as a case of HbE/β-Thalassemia after doing Hb electrophoresis. [jmedsoc.org]

  […] t. major and the heterozygous form is called t. minor. thalassemia ma´jor the homozygous form of β-thalassemia, in which hemoglobin A is completely absent; it appears in the newborn period and is marked by hemolytic, hypochromic, microcytic anemia; hepatosplenomegaly [medical-dictionary.thefreedictionary.com]

  On examination, he had mild hepatosplenomegaly. [ijpmonline.org]

  Untreated patients exhibit hepatosplenomegaly, severe anemia, hypersplenism, and skeletal disease. [1] Hydroxyurea has been used in patients with different hemoglobinopathies in India with some success. [2], [3], [4] With increasing awareness about the [jpgmonline.com]

  The consequences of HbE/β-thalassemia when not treated can be heart failure, hepatosplenomegaly, postsplenectomy thrombotic complications, and iron overload. [jlponline.org]

• Hepatomegaly

  Abdominal examination revealed 26-week size uterus with regular fetal heart rate of 138/min, hepatomegaly +, and splenomegaly +. [jmedsoc.org]

  Physical examination revealed pallor (3+), icterus (2+), huge splenomegaly (11 cm) with mild hepatomegaly (3 cm). [jdrntruhs.org]

  Feeding problems, diarrhea, irritability or fussiness, recurrent fevers, abnormal enlargement of the liver (hepatomegaly), and the abnormal enlargement of the spleen (splenomegaly) may also occur. [rarediseases.org]

  It affects more than a million people in the world. [6] Symptoms of hemoglobin E/β-thalassemia vary but can include growth retardation, enlargement of the spleen ( splenomegaly ) and liver ( hepatomegaly ), jaundice, bone abnormalities, and cardiovascular [en.wikipedia.org]

  We did not exclude any patient based on age alone, nor did we exclude any class 3 patients with hepatomegaly or iron overload ( Table 1 ). [nature.com]

• Ulcer

  Other less common symptoms and complications included bone pain, chronic leg ulcers, paraplegia and hypertension-associated convulsions, and cerebral hemorrhage after multiple blood transfusion. [journals.lww.com]

  Affected individuals may develop leg ulcers, an increased risk of developing blood clots within a vein (venous thrombosis) and decreased bone mineralization resulting in brittle bones that are prone to fracture (osteoporosis). [rarediseases.org]

  Leg ulcers. After all of the disasters mentioned above, this seems trivial. [web2.iadfw.net]

  Complications that occur in the absence of blood transfusions are splenomegaly, bone deformities, extramedullary masses and leg ulcers. Progressive iron overload has been associated with liver disease (cirrhosis and hepatocellular cancer). [omicsonline.org]

• Frontal Bossing

  When facial bones are affected it can result in distinctive facial features including an abnormally prominent forehead (frontal bossing), full cheek bones (prominent malar eminence), a depressed bridge of the nose, and overgrowth (hypertrophy) of the [rarediseases.org]

• Dizziness

  Severe anemia develops and is associated with fatigue, weakness, shortness of breath, dizziness, headaches, and yellowing of the skin, mucous membranes and whites of the eyes (jaundice). [rarediseases.org]

• Headache

  Severe anemia develops and is associated with fatigue, weakness, shortness of breath, dizziness, headaches, and yellowing of the skin, mucous membranes and whites of the eyes (jaundice). [rarediseases.org]

• Lethargy

  If untreated, beta thalassemia major can lead to severe lethargy, paleness, and delays in growth and development. The body attempts to compensate by producing more blood, which is made inside the bones in the marrow. [medical-dictionary.thefreedictionary.com]

[…] 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]

• Microcytosis

  Hb E trait (heterozygous Hb E, Hb AE) is an asymptomatic benign condition associated with microcytosis (average MCV 72 fl) but no anemia. On electrophoresis, Hb A always predominates over Hb E. [path.upmc.edu]

  Such individuals are usually not anemic but may have microcytosis. [web2.iadfw.net]

  Find articles by Altman, A. in: JCI | PubMed | Google Scholar Find articles by Adams, J. in: JCI | PubMed | Google Scholar First published July 1, 1981 - More info Abstract Inheritance of the gene for betaE-globin is associated with hypochromia and microcytosis [jci.org]

  In heterozygotes (Hb AE), a microcytosis is present without anemia, and target cells can be seen on peripheral blood smear. In homozygotes, a mild microcytic anemia with prominent target cells exists. [merckmanuals.com]

  Mild anemia, with microcytosis and low HbA 2 levels, was present in the three patients. [scielo.org.mx]

• 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 heterozygotes (Hb AE), a microcytosis is present without anemia, and target cells can be seen on peripheral blood smear. In homozygotes, a mild microcytic anemia with prominent target cells exists. [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]

  In the homozygous state, beta thalassemia (ie, thalassemia major) causes severe, transfusion-dependent anemia. In the heterozygous state, the beta thalassemia trait (ie, thalassemia minor) causes mild to moderate microcytic anemia. (See Etiology .) [emedicine.medscape.com]

  Cooley's anemia was a fatal microcytic anemia of children of Mediterranean descent. [web2.iadfw.net]

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]

But with current treatments, people are likely to live into their 50s, 60s and beyond. [nhs.uk]

Treatment depends on how severe your condition is. Most large medical centers have treatment centers for blood disorders. They are an excellent resource to help you and your family get the best care. [northshore.org]

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]

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]

Introduction Thalassemia is a hemoglobinopathy which, in its more severe forms, has a quite poor prognosis. [nature.com]

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]

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]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

The etiology of this patient's anemia is most likely due to double heterozygosity for Hb E and beta thalassemia. [path.upmc.edu]

(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]

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]

B.Modell et al., Epidemiology of haemoglobin disorders in Europe: an overview. Scand J Clin Lab Invest. 67, 39 (2007) R. Herklotz et al., Hämoglobinopathien ? Klinik und Diagnostik von Thalassämien und anomalen Hämoglobinen. Therap. [charite.de]

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]

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]

Interaction between HbE and β-thalassemia alleles is the main determinant in pathophysiology. [4], [7], [8], [12] Thai investigations suggest that patients who coinherit a mild β-thalassemia allele with HbE may have disease on mild end of the spectrum [jlponline.org]

This helps scientists look for better ways to prevent and treat thalassaemia. You can opt out of the register at any time. [nhs.uk]

These would be applied for national planning, economic evaluation of treatment and prevention interventions, and budget impact analysis. [bmcresnotes.biomedcentral.com]

Prevention Because hemoglobin E trait and the related diseases are hereditary, the only thing that you can do to avoid the spread of it is not to have children with someone who is also a carrier of hemoglobin E. [stanfordchildrens.org]

Fucharoen S, Winichagoon P (1992) Thalassemia in Southeast Asia: problem and strategy for prevention and control. Southeast Asian J Trop Med Public Health 23:647–655 PubMed Google Scholar 4. [link.springer.com]

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]