Expectancy Information and Courses from MediaLab, Inc.
These are the MediaLab courses that cover Expectancy and links to relevant pages within the course.
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| Alpha Thalassemia Intermedia Alpha thalassemia intermedia (Hemoglobin H Disease) results from a deletion of three out of four alpha chain loci. Infants born with alpha thalassemia intermedia appear normal at birth but often develop anemia and splenomegaly by the end of their first year. Hepatomegaly is not a common finding and there may be some association with mental retardation. Due to the hemolytic nature of this anemia, there may be an increase in respiratory infections, leg ulcers and gallstones. Skeletal changes are not commonly seen in hemoglobin H disease. Every ethnic group can have occurrences of hemoglobin H disease; but it is most often seen in Southeast Asian, the Middle East and the Mediterranean islands. Development and life expectancy are usually normal, but some affected individuals may require splenectomy and transfusion therapy. | View Page |
| Summary The normal RBC count (4.84 x 1012/L) in this case, together with the decreased hemoglobin (8.4 g/dL) and MCV (59 fl) is an indicator of ineffective erythropoeisis that often points to thalassemia.The RBC morphology shows slight hypochromic microcytosis with codocytes, schizocytes, and basophilic stippling. Schizocytes form by several mechanisms, one being the removal of RBC inclusions.This patient's elevated bilirubin correlates with her presentation of sclera icterus; her splenomegaly is consistent with increased RBC destruction.The Hb electrophoresis demonstrated a normal pattern, initially, but the unstable Hemoglobin H was revealed upon repeat electrophoresis with reduced incubation time. Hemoglobin H is the result of beta globin chain tetramer formation due to the insufficient supply of alpha globin chains in alpha thalassemia intermedia.People with Hemoglobin H disease (alpha thalassemia intermedia) usually have a normal life expectancy without treatment. However, hemolysis may lead to moderate anemia that may be treated with splenectomy. | View Page |
| Prognosis and Mortality The major determinant of prognosis in cases of hereditary hemochromatosis (HH) is the degree of organ damage from iron overload at the point of diagnosis. The presence of liver cirrhosis reduces life expectancy. Damage that has occurred to tissues and organs is irreversible, but further damage can be halted with treatment. When there is no evidence of cirrhosis at time of diagnosis, life expectancy may be equal to that of persons without HH. With proper management of HH through treatment, affected individuals have good long-term outcomes. Hepatocellular carcinoma associated with cirrhosis, hepatic failure, and cardiac failure are the most common causes of death in persons with HH. Compared to the normal population, liver cancer is many times more prevalent as a cause of death in persons with HH. Cardiomyopathy, diabetes, and cirrhosis are all more common causes of death among persons with HH than among normal persons. The earlier HH is detected, before the onset of severe organ damage, the lower the risk of mortality. | View Page |