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]

• 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]

  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]

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

  The physical findings in a typical patient are pallor and jaundice. A minority of patients have splenomegaly (2). [ispub.com]

  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]

• Aspiration

  Sternal aspiration yielded a dry tap. One milliliter of marrow diluted with blood was aspirated from the posterior iliac crest. Bone marrow aspiration smears were hypocellular for the age and for the degree of anemia with M:E ratio of 1:1.8. [jlponline.org]

• Forgetful

  Suggested Reading: Bunn HF, Forget B. Hemoglobin: Molecular, Genetic and Clinical Aspects. Philadelphia, PA, Saunders, p. 453. 1986 [sickle.bwh.harvard.edu]

  Bunn FH, Forget BG. Hemoglobin: molecular, genetic and clinical aspects 1986 : 425 -427 WB Saunders Philadelphia (PA).. Abraham EC. Glycosylated hemoglobins 1985 : 91 -171 Marcel Dekker New York (NY).. Fluckiger R. Glycated hemoglobins [Review]. [clinchem.aaccjnls.org]

  Bunn HF, Forget BG (1986) Hemoglobin: molecular, genetic and clinical aspects. Saunders, Philadelphia. 3. [journals.plos.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]

[…] 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. [msdmanuals.com]

  The RBC count is also useful as a diagnostic adjunct because the thalassemias produce a microcytic anemia with an associated increase in the RBC number. [clinchem.aaccjnls.org]

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]

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]

Treatment of infections, as well of Thrombosis prophylaxis, is recommended. Bone Marrow Transplantationis only rarely indicated. [codelay.com]

Most people with HbE disease do not need any treatment. [1] [2] Last updated: 3/22/2017 [rarediseases.info.nih.gov]

Most patients do not require treatment. However, patients with severe disease may benefit from chronic transfusions or splenectomy. Click here for Patient Education NOTE: This is the Professional Version. [msdmanuals.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]

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]

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

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]

(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]

[…] 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]

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]

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. Umschau 63, 35 (2006) A. [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]

Global epidemiology of haemoglobin disorders and derived service indicators. . Accessed December 3, 2013. HbVar: A database of human hemoglobin variants and thalassemias. . Accessed December 3, 2013. Giordano, PC. [mlo-online.com]

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]

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]

It has an increased affinity for oxygen which prevents it from releasing oxygen to the tissues and cells. HbH can result in fewer red blood cells with mild to moderate anemia but usually no clinical symptoms develop. [wikilectures.eu]

Jude Children's Research Hospital Sickle Cell Kids Quiz Centers for Disease Control and Prevention Sickle Cell Disease Association of America MSDH Newborn Screening: Genetic Counseling Questions & Answers Mississippi Sickle Cell Foundation Cure Sickle [msdh.ms.gov]