Presentation
It was impossible to make a definite diagnosis in one boy who might have had any one of the three conditions presented by the rest of the family. [bloodjournal.org]
Anisocytosis, poikilocytosis, and target cells were present in almost all cases. [jscisociety.com]
Hemoglobin S in moderate amounts can mean that sickle cell trait is present. Hemoglobin S in high amounts means sickle cell disease. Hemoglobin C in low amounts can mean that hemoglobin C trait is present. [northshore.org]
Identification of this Hb variant is important because patients with doubly heterozygous HbE/β-thalassemia may present clinically as thalassemia major. [jlponline.org]
Clinical Findings: Pallor was present in 71.4% of patients with HbE trait and all the patients of HbE disease. Icterus was found in 8.5 % of HbE trait & 40% case of HbE disease. Splenomegaly was found in 2 cases of HbE disease in the present study. [medresearch.in]
Entire Body System
- Pallor
She showed a mild microcytic, hypochromic anemia with a normal iron balance; clinical examination was normal with neither pallor nor icterus nor splenomegaly; electrophoresis of hemoglobin yielded no hemoglobin A, a sligtly increased amount of HbF and [ncbi.nlm.nih.gov]
Physical examination revealed pallor (3+), icterus (2+), huge splenomegaly (11 cm) with mild hepatomegaly (3 cm). [jdrntruhs.org]
Pallor was the most common sign in patients with HbE trait, and was observed in all the patients of HbE disease. Icterus was the second most common sign observed. Splenomegaly was seen in 20% cases of HbE disease (Table 2). [medresearch.in]
Examination revealed the following statistics: body weight of 44 kg, body mass index (BMI) of 19 kg/m 2, regular pulse rate of 100/min, blood pressure of 110/70 mmHg, pallor ++, pedal edema +, and normal jugular venous pressure (JVP). [jmedsoc.org]
The physical findings in a typical patient are pallor and jaundice. A minority of patients have splenomegaly (2). [ispub.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]
Therefore, a hematological workup was initiated. The results of an evaluation revealed the presence of HbE trait based on the decreased HbA level of 65% with an increase in HbE. [ispub.com]
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]
Serum
- 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. [msdmanuals.com]
Treatment
The second edition concludes with current and developing approaches to treatment, incorporating new agents for iron chelation, methods to induce fetal hemoglobin production, novel treatment approaches, stem cell transplantation, and progress in gene therapy [books.google.com]
Seite 295 - Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III). [books.google.de]
Treatment of infections, as well of Thrombosis prophylaxis, is recommended. Bone Marrow Transplantationis only rarely indicated. [codelay.com]
Which treatment must I follow if I have the disease? Most often no particular treatment is requested. If some complications happen, patients must consult specialist doctors. In case of Hb E-Β-thalassaemia, transfusion therapy might be required. [enerca.org]
There are differences in the practice of thalassemia treatment. [bmcresnotes.biomedcentral.com]
Prognosis
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]
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]
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]
Etiology
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]
The etiology for the marked variation in phenotype remains largely unknown. Correct laboratory diagnosis is essential to separate asymptomatic genotypes from severe mutations. [medresearch.in]
Epidemiology
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]
Malaria Genomic Epidemiology Network Consortium. A global network for investigating the genomic epidemiology of malaria. Nature 456, 732–737 (2008). 48. Gilks, W. R., Richardson, S. & Spiegelhalter, D. Markov chain Monte Carlo in Practice. [nature.com]
[…] mutations, it provides an increased resistance to malaria ( P. falciparum ). [5] This disease was first described by Virginia Minnich in 1954, who discovered a high prevalence of it in Thailand and initially referred to it as "Mediterranean Anaemia." [7] Epidemiology [en.wikipedia.org]
Genetic epidemiology of the three predominant abnormal hemoglobins in India. J Assoc Physicians India 1996;44:25-8. 2. Krishnamurti L. [jmedsoc.org]
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]
Pathophysiology
Pathophysiology of common hemoglobin disorders is discussed next in an entirely new section devoted to vascular biology, the erythrocyte membrane, nitric oxide biology, and hemolysis. [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]
The question is wether there are pathophysiological consequences of this association. [ispub.com]
Prevention
Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection. [books.google.de]
These would be applied for national planning, economic evaluation of treatment and prevention interventions, and budget impact analysis. [bmcresnotes.biomedcentral.com]
During childhood, regular follow-up of Growth and Facial deformities, haemoglobin level, vaccinations to prevent Infections that may worsen the anemia, and identification and treatment of potential Infectious sites are essential, together with regular [codelay.com]
P.C.Giordano: Carrier Diagnostics and Prevention of Haemoglobinopathies using Capillary Electrophoresis, Companion handbook for the Physician, the laboratory doctor and Genetic counselor 2007:9-10 CHERNOFF AI, MINNICH V, CHONGCHAREONSUK S. [medresearch.in]