A South Vietnamese adolescent girl is seen in the student health clinic for complaints of shortness of breath. Her laboratory results reveal WBC = 9.0 X 109/L, Hgb = 9.0 g/dL, Hct = 27%, MCV = 62 fL, and MCHC = 30.2. The peripheral smear revealed moderate target cells, microcytes, hypochromic, and some fragments. Hemoglobin electrophoresis at pH 8.6 indicates three bands: a heavy band in the A position, a lighter band in the F position, and a moderate band that is faster than Hgb A. What is your clinical impression?
This patient most likely has hemoglobin H disease and is showing signs of anemia. She has done a good job of compensating and probably never needed transfusion. Her peripheral smear abnormalities combined and her electrophoresis results are fairly conclusive for this alpha thalassemia.
• An anemia classified as microcytic, hypochromic means that there is a decreased MCV and decreased MCHC.
• The most common microcytic anemias are IDA, sideroblastic anemias, hereditary hemochromatosis, and anemia of chronic disease.
• Iron is ingested, absorbed from the duodenum and jejunum, and then moved to the bone marrow by transferrin, the transport protein.
• Individuals with IDA will experience symptoms of anemia and perhaps cheilitis, koilonychia, or pica.
• Individuals with iron deficiency will have a decreased serum iron and serum ferritin and increased TIBC.
• The anemia of chronic disease or the anemia of inflammation is one of the most common anemias in the hospital population.
• Hereditary hemochromatosis (HH) is an inherited iron loading anemia.
Multiple organs are affected in HH, because individuals with HH have been iron loading for decades.
The serum iron and serum ferritin are high in HH.
Therapeutic phlebotomy is the therapy of choice for HH.
The thalassemia syndromes are globin chain synthetic defects.
There are four clinical conditions of alpha thalassemia, each caused by gene deletions.
Beta thalassemia major is the most severe of the beta thalassemic conditions.
Individuals with beta thalassemia major will have a severe anemia, splenomegaly, and thalassemic facies.
The majority hemoglobin in beta thalassemic major is hemoglobin F
Beta thalassemia minor is similar to IDA with the exception of an elevated RBC and an elevated hemoglobin A2.
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