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Correct Answer: thalassemia minor
based on the clinical findings of microcytic and hypochromic red blood cells with a mildly elevated total red blood cell count, the most likely diagnosis for your 32-year-old patient of greek descent is thalassemia minor. thalassemia is a genetic blood disorder involving less than normal amounts of an oxygen-carrying protein, hemoglobin, in the red blood cells.
thalassemia minor, also known as beta-thalassemia trait, results from a mutation in one of the genes involved in hemoglobin production. this condition leads to the production of abnormal hemoglobin molecules, resulting in the formation of microcytic (smaller than normal) and hypochromic (less color than normal) red blood cells. this is reflective of the red blood cells' reduced ability to carry oxygen efficiently.
the diagnosis of thalassemia minor is particularly relevant in individuals of mediterranean, middle eastern, african, and asian descent, where the prevalence of the gene mutations associated with thalassemia is higher. given your patient’s greek ethnicity, this further supports the likelihood of thalassemia minor. individuals with thalassemia minor are typically asymptomatic or exhibit only mild anemia symptoms, and they often lead normal, healthy lives without the need for treatment.
in the context of differential diagnosis, other conditions such as pernicious anemia and acute leukemia present with different hematological profiles and symptoms. pernicious anemia, characterized by the inability to absorb vitamin b12 properly, typically shows macrocytic (larger than normal) red blood cells, not microcytic as in this case. acute leukemia generally involves the abnormal proliferation of white blood cells, not primarily affecting the size and color characteristics of red blood cells as seen in thalassemia minor.
normocytic anemia, where the red blood cells are of normal size but reduced in number, is also inconsistent with the findings in your patient, further supporting thalassemia minor as the most probable diagnosis. the red blood cell indices, particularly mean corpuscular volume (mcv) and mean corpuscular hemoglobin (mch), which are typically lowered in thalassemia minor, help in distinguishing it from other types of anemia.
in conclusion, the combination of your patient's ethnic background, the specific red blood cell abnormalities noted, and the absence of symptoms consistent with other forms of anemia strongly point towards thalassemia minor. confirmatory diagnostic tests, such as hemoglobin electrophoresis, can be conducted to validate this diagnosis and guide any necessary follow-up or genetic counseling.
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