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Which of the following statements concerning thalassemias is the most accurate?
A 35-year-old white woman comes to your office to follow up on recent abnormal laboratory results. She was found to be severely microcytic with a mild anemia. She is asymptomatic, has normal periods, and has not noticed any blood loss. You suspect a thalassemia and counsel the patient that she probably has a mild disease.



A. ß-Thalassemia minor results in a mild anemia and is also known as Cooley s anemia.
B. ß-Thalassemia major is often undiagnosed until adulthood.
C. Hemoglobin H disease is common in African Americans.
D. Patients with ß-thalassemia minor are usually heterozygous for a ß-globin mutation and have either mild or no anemia.
Asked by Cedrick, Last updated: Feb 05, 2020

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1 Answer

John Smith

John Smith

Answered Sep 08, 2016

Patients with -thalassemia minor are usually heterozygous for a -globin mutation and have either mild or no anemia.--thalassemia major is usually a homozygous or doubly heterozygous condition; both parents of an affected individual carry a -thalassemia trait. in 0-thalassemia, the most severe variant, no chains are synthesized; only hbf and hba2 are found. +-thalassemia is somewhat less severe. it is characterized by small amounts of chains and small quantities of hba in addition to hbf and hba2. -thalassemia major is characterized by severe anemia that appears in the first year of life. patients also have jaundice, hepatosplenomegaly, expansion of the erythroid marrow with secondary body changes (including retarded growth), and an increased susceptibility to infection. patients with -thalassemia minor are usually heterozygous for a -globin mutation and have either mild or no anemia. the clinical picture of hemoglobin h disease is that of variable hemolytic anemia occurring in patients of asian, middle eastern, or mediterranean origin. hbh, which precipitates on staining with brilliant cresyl blue, can usually be detected in the patients freshly drawn rbcs. splenomegaly is common. patients usually do not require regular transfusions, but transient rbc support may be necessary when the patient has infection or experiences other oxidative stresses that lead to the precipitation of the unstable hbh and enhanced hemolysis.
 

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