Splenomegaly may or may not be present. The presence of large numbers of both microspherocytes and target cells in the blood smear should suggest the possibility of this diagnosis. [pediatrics.aappublications.org]

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]

With no deletions, there is approximately 20% HbG, with one deletion about 30% G is present, and with two about 40% is present. *** Also known as D Punjab (same mutation) # Not a mutation, Lepore is the product of the indicated crossover during meiosis [wardelab.com]

Most patients adapt well to the hemolysis, and anemia is often only borderline anemia; however, there is generally some splenomegaly present. [clinicaladvisor.com]

The proband was homozygous for Hb-C but had Hb-F levels far exceeding those present in Hb-C disease. [ncbi.nlm.nih.gov]

• Anemia

  Homozyotes usually have a mild chronic hemolytic anemia and splenomegaly and symptoms consistent with anemia. Cholelithiasis is the most common complication, and splenic sequestration is possible. [merckmanuals.com]

  […] methemoglobinemia Hereditary persistence of fetal hemoglobin - beta-thalassemia Hereditary persistence of fetal hemoglobin - sickle cell disease Beta-thalassemia intermedia Beta-thalassemia major Delta-beta-thalassemia Dominant beta-thalassemia Heinz body anemia [csbg.cnb.csic.es]

  60 33 hallmark (90%) Very frequent (99-80%) HP:0001935 3 abnormal hemoglobin 60 33 hallmark (90%) Very frequent (99-80%) HP:0011902 4 anemia 60 Very frequent (99-80%) Search GEO for disease gene expression data for Hemoglobin C-Beta-Thalassemia Syndrome [malacards.org]

  Sickle Hemoglobin-C disease may cause similar symptoms as sickle cell anemia but less anemia due to a higher blood count level. [scancainc.org]

  These genes interact to produce a form of sickle cell anemia called sickle beta thalassemia. [msdh.state.ms.us]

• Pain

  It is important to try to avoid sickle cell pain as mentioned above. Once pain occurs, it is important to use many approaches to treat the severe pain in SCD, not just medications. [rarediseases.org]

  […] heat or cold to the best effect in managing the pain; monitor pain severity; assess sickle pain characteristics, location, type, and duration; monitor pain severity (severe joint pain, abdominal, or back pain may last for days); administer prescribed [medical-dictionary.thefreedictionary.com]

  If the patient has high fever, severe pain requiring opiate analgesia, pain in the chest, spine or abdomen, or neurological signs, he or she should be admitted to hospital. [sicklecellsociety.org]

  Pain usually occurs in bones and joints. The pain can vary from mild to severe, and may come on suddenly. [patient.info]

  Acute pain episodes may progress to infarction of bone marrow or bone and avascular necrosis may develop in hip. Painful crisis: This is the most common and usually due to infarction either in bone, spleen or in the lung (the chest syndrome). [ndri.com]

• Asymptomatic

  Heterozygotes are asymptomatic. Homozyotes usually have a mild chronic hemolytic anemia and splenomegaly and symptoms consistent with anemia. Cholelithiasis is the most common complication, and splenic sequestration is possible. [merckmanuals.com]

  Hypochromic microcytes and target cells are the main features in asymptomatic individuals. [clinlabnavigator.com]

  Haemoglobin S combined with normal haemoglobin (A), known as sickle trait (AS), is asymptomatic, except for a possible increased risk of urinary tract infections and microscopic haematuria, and is not considered further in this guideline. [rcog.org.uk]

  Individuals who are doubly heterozygous for haemoglobin E and beta thalassaemia have an anaemia that can vary in severity, from mild (or asymptomatic ) to severe. Haemoglobin S – beta thalassaemia. [labtestsonline.org.au]

  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]

• Pathologist

  College of American Pathologists hemoglobinopathy survey HG-B 1999 College of American Pathologists Chicago, IL.. ↵ Turpeinen U, Sipliä I, Antila P, Kayalainen U, Kuronen B, Kaltekinen N, et al. [clinchem.aaccjnls.org]

  With further study, a noted pathologist later suggested that the pain experienced by sickle cell patients resulted from the blockage of tiny blood vessels. In a landmark 1949 study, Dr. [hematology.org]

  […] medical societies: American Association for the Advancement of Science, American Association of Blood Banks, American Clinical and Climatological Association, American Society for Clinical Pathology, American Society of Hematology, College of American Pathologists [emedicine.medscape.com]

  In this test, a trained medical scientist or pathologist looks under the microscope at a thin layer of blood on a slide treated with a special stain. [labtestsonline.org.au]

  Typically, the laboratory report includes an interpretation by a pathologist with experience in the field of hematology (hematopathologist). Results of the evaluation usually report the types of hemoglobin present and the relative amounts. [labtestsonline.org]

• Pallor

  This disease may present with enlargement of spleen, fatigue, shortness of breath, acute chest pain, coughing, dizziness, headaches, pallor of skin or mucous membranes, hypoxia, fever and jaundice. [medicbind.com]

  This explains why people with a sickle cell disorder have anaemia (pallor) and jaundice (yellow color of the eyes); when the circulation is blocked by the sickle-shaped red blood cells, it results in pain episodes (arms, legs, chest and abdomen), tissue [enerca.org]

  The physician noted hepatosplenomegaly, extreme pallor, and a slight arrhythmia. [quizlet.com]

  There is pallor, fatigue, jaundice and gallstones during childhood and adolescents. Acute sickle dactylitis or hand-and-foot syndrome, recurrent ischemic pain particularly abdominal or musculoskeletal is very common. [ndri.com]

• Abdominal Pain

  There may be very occasional episodes of joint and abdominal pain which are attributed to Hb CC disease. Splenomegaly is common. Aplastic crises and gall stones may occur. [sctpn.net]

  A common symptom in babies and young children is small bones in the fingers and toes becoming swollen and painful - this is known as dactylitis. Episodes of tummy (abdominal) pain can occur if sickle cells block blood vessels in your abdomen. [patient.info]

• Hip Pain

  Acute pain episodes may progress to infarction of bone marrow or bone and avascular necrosis may develop in hip. Painful crisis: This is the most common and usually due to infarction either in bone, spleen or in the lung (the chest syndrome). [ndri.com]

Medical Workup: The initial laboratory test to screen for sickle cell disease/trait is a Sickledex™; if positive then hemoglobin electrophoresis is required. Hb AS, with Hb S up to 45 % is acceptable for flying duties. [asams.org]

Hemoglobin levels outside the normal range can indicate a number of different medical disorders, and your doctor may order the test to screen for them or as part of a diagnostic workup. [verywell.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]

• Microcytosis

  The father also had Hb-C trait but in addition displayed microcytosis, elevated Hb-F levels and a concentration of Hb-C less than usual for heterozygotes. [ncbi.nlm.nih.gov]

  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]

  Individuals who are compound heterozygotes for Hb E and B+ thalassemia have a moderate disease with anemia, microcytosis, splenomegaly, and jaundice. [sctpn.net]

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

  A peripheral blood smear will demonstrate microcytosis, some hypochromic RBC's, and some target cells. Hemoglobin electrophoresis will reveal 90 to 95% hemoglobin S, 5% hemoglobin A2, and 5 to 10% hemoglobin F. [health.auckland.ac.nz]

• Microcytic Anemia

  anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001935 3 abnormal hemoglobin 60 33 hallmark (90%) Very frequent (99-80%) HP:0011902 4 anemia 60 Very frequent (99-80%) Search GEO for disease gene expression data for Hemoglobin C-Beta-Thalassemia [malacards.org]

  This disease produces a microcytic anemia which is usually mild but which may be severe. Splenomegaly may or may not be present. [pediatrics.aappublications.org]

  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]

  Thalassemia The most common causes of hypochromic microcytic anemia are the following: Iron deficiency anemia Thalassemia Sideroblastic anemias (hereditary or acquired secondary to a toxic effect such as lead poisoning, or drugs) Severe anemia of chronic [clinlabnavigator.com]

• Heinz Bodies

  body anemia Hb-C disease Hb-D disease Hb-E disease Hemoglobinopathy NOS Unstable hemoglobin hemolytic disease Type 1 Excludes familial polycythemia ( D75.0 ) Hb-M disease ( D74.0 ) hemoglobin E-beta thalassemia ( D56.5 ) hereditary persistence of fetal [icd10data.com]

  […] dominant methemoglobinemia Hereditary persistence of fetal hemoglobin - beta-thalassemia Hereditary persistence of fetal hemoglobin - sickle cell disease Beta-thalassemia intermedia Beta-thalassemia major Delta-beta-thalassemia Dominant beta-thalassemia Heinz [csbg.cnb.csic.es]

  […] severe anemia requiring repeated blood transfusions -elevated levels of ferrous iron (Fe^2+) in the red cells -presence of Heinz bodies on Wright-stained blood smear -elevated methemoglobin Heinz bodies are found when hemoglobin: -precipitates -has higher [quizlet.com]

  Unstable hemoglobin (Heinz body anemia) Certain abnormalities in the globin chain sequence produce a hemoglobin that is intrinsically unstable. When the hemoglobin destabilizes, it forms up into erythrocyte inclusions called Heinz bodies. [web2.iadfw.net]

  Waugh SM, Low PS (1985) Hemichrome binding to band 3: nucleation of Heinz bodies on the erythrocyte membrane. Biochemistry 24: 34–39. View Article Google Scholar 9. [journals.plos.org]

• Howell-Jolly Bodies

  Nucleated red cells and Howell-Jolly bodies are often present. The total WBC count is elevated to 12,000-20,000/cmm, with a predominance of neutrophils. The platelet count is usually increased; the sedimentation rate is slow. [ndri.com]

  As the spleen becomes compromised with repeated infarctions, Howell-Jolly bodies are also seen. Several factors can lead to crises in sickle cell disease (Table 3). Anything that leads to hypoxia will promote sickling. [wardelab.com]

  Reticulin and Howell Jolly bodies do not have the distinctive pattern of Hb H inclusions; however, a brisk reticulocytosis can make identification of a rare H-containing cell difficult. electrophoresis Traditionally, electrophoresis has been the method [clinchem.aaccjnls.org]

• Anisocytosis

  Patients with more severe forms of thalassemia have the following red blood cell findings: Hypochromic microcytic red blood cells Anisocytosis and poikilocytosis Target cells, ovalocytes, occasional fragmented red blood cells, basophilic stippling, increased [clinlabnavigator.com]

  […] months of age Sickling Test Anemia MCV/Morphology C Trait 40/60 F < 2% negative no 75 fL target cells C/C Disease 100/0 F < 3% negative mild to moderate hemolysis, which may be compensated 70 fL polychromasia, abundant target cells and spherocytes, anisocytosis [clinicaladvisor.com]

  In those with Sickle Cell Anaemia, however, the haemoglobin is between 7 and 10 G / l and the blood picture shows anisocytosis, sickle cells and a raised reticulocyte count due to haemolysis. [sicklecellsociety.org]

  The red blood cells may be: Microcytic (smaller than normal) Hypochromic (paler than normal) Varying in size (anisocytosis) and shape (poikilocytosis, e.g. sickle cells) Having a nucleus (not normal in a mature RBC) Having uneven haemoglobin distribution [labtestsonline.org.au]

295 ページ - 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). ‎ 3 ページ - Because of this human characteristic of dislike [books.google.com]

Without treatment, people with SCD may die in childhood, from problems such as infection. Good treatment makes a great difference. Improvements in treatment mean that life expectancy has increased. [patient.info]

As scientific progress and technology improved, new treatment regimens evolved for sickle cell disease patients. [hematology.org]

Treatment Treatment often is not needed for mild beta thalassemia. For more severe forms of the condition, the only cure is transplant, either bone marrow transplant or cord blood transplant. [news-medical.net]

Expected Outcomes Treatments can help relieve some of the signs, symptoms, and complications of S, C disease (Hb S/C). Children who receive early and on-going treatment can live healthy lives. [babysfirsttest.org]

However, in some cases the symptoms of beta-zero thalassemia are worse than those seen in homozygous sickle cell disease and is often associated with a poor prognosis. [hinapatelfoundation.org]

Folic acid supplementation may help produce normal red blood cells and improve the symptoms of anemia [7] Prognosis [ edit ] Overall, hemoglobin C disease is one of the more benign hemoglobinopathies. [5] Mild-to-moderate reduction in RBC lifespan may [en.wikipedia.org]

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]

There is a lot of individual variation in the severity and outlook (prognosis) for SCD. Some people get very few problems from their SCD; others have more symptoms or more complications. [patient.info]

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]

[…] body system manifestations due to the underlying etiology. [icd10data.com]

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

Anemia may be classified on the basis of etiology, or morphological characteristic. [ndri.com]

Genetic etiologies for phenotypic diversity in sickle cell anaemia. Scientific World Journal. 2009; 9: 46-67.. PubMed | Google Scholar Akanni EO, Oseni BS, Bamisaye EO, Raji AA, Mewoyeka OO, Hassan RO. [panafrican-med-journal.com]

C- beta-thalassemia - HbC - beta-thalassemia Classification (Orphanet): - Rare genetic disease - Rare hematologic disease Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism - Epidemiological [csbg.cnb.csic.es]

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]

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]

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]

Individuals with hemoglobin C disease have sporadic episodes of musculoskeletal (joint) pain. [5] People with hemoglobin C disease can expect to lead a normal life. [7] Epidemiology [ edit ] Hemoglobin C gene is found in 2-3% of African-Americans [3] [en.wikipedia.org]

Further Reading All Thalassemia Content Thalassemia Genetic Prevalence Thalassemia Prevalence Thalassemia Pathophysiology Thalassemia Treatment [news-medical.net]

Pathophysiology There are various types of hemoglobins like A1, A2, S, C, and F. In the electromagnetic field, the hemoglobin moves with different rate and form various bands. The patient sample is compared to the normal Hb pattern. [labpedia.net]

Pathophysiology Normal blood cells that are round and oval can easily pass through smaller blood vessels including capillaries. [eyewiki.aao.org]

There are a number of different treatments which help to prevent sickling episodes, or prevent related problems such as infection. [patient.info]

This drug prevented iron-induced heart disease and helped patients live much longer. Recently, two oral drugs have become available to remove iron. [hematology.org]

Counselling is essential to prevent an increase in the incidence of haemoglobin variants and the thalassaemias. [star2.com]

The Centers for Disease Control and Prevention (CDC) urge people with thalassemia to keep their vaccinations up to date, to prevent illness. [medicalnewstoday.com]

Prevention is making only a small impression: affected birth prevalence is estimated at 2.55 per 1000. [who.int]