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"When less has more" : a case of a 53-year old female diagnosed with hemoglobin h disease / Elbert DG. Mendez.

By: Language: English Publication details: Fairview, Quezon City Department of Internal Medicine, FEU-NRMF 2016Description: illustrations; (in folder)Content type:
  • rdacontent
Media type:
  • rdamedia
Carrier type:
  • rdacarrier
LOC classification:
  • MED20160017
Summary: ABSTRACT: Hemoglobin H (HbH) disease is a mild but often more severe form of α-thalassemia. It results from deletion of three loci of a α-gene of the globin chain resulting to accumulation of tetramers of β-globin chain; leading to a microcytic and hypochromic type of anemia. In this case, we described a 53-year old female incidentally diagnosed with anemia, who initially consulted for an anterior neck mass and underwent total thyroidectomy. During the course of her admission, multiple blood transfusions were given as well as iron replacement therapy. CBC, PBS, and reticulocyte count were done consistent with a established mycrocytic and hypochromic anemia. However, serum ferritin showed an eightfold elevation (iron overload), hence hemoglobin electrophoresis was done and was compatible with HbH disease. Iron replacement was discontinued and a close follow up was done.
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Research Far Eastern University - Nicanor Reyes Medical Foundation Research MED20160017 (Browse shelf(Opens below)) Available R000593

Includes bibliographical references.

ABSTRACT: Hemoglobin H (HbH) disease is a mild but often more severe form of α-thalassemia. It results from deletion of three loci of a α-gene of the globin chain resulting to accumulation of tetramers of β-globin chain; leading to a microcytic and hypochromic type of anemia. In this case, we described a 53-year old female incidentally diagnosed with anemia, who initially consulted for an anterior neck mass and underwent total thyroidectomy. During the course of her admission, multiple blood transfusions were given as well as iron replacement therapy. CBC, PBS, and reticulocyte count were done consistent with a established mycrocytic and hypochromic anemia. However, serum ferritin showed an eightfold elevation (iron overload), hence hemoglobin electrophoresis was done and was compatible with HbH disease. Iron replacement was discontinued and a close follow up was done.

Research - Department of Medicine

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