What is the morbidity and mortality associated with hemoglobinopathy retinopathy?

Updated: Sep 03, 2019
  • Author: Brian A Phillpotts, MD; Chief Editor: Hampton Roy, Sr, MD  more...
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Answer

Sickle cell trait (Hb AS): These patients generally have a normal life expectancy with no systemic or ocular problems. Cases of significant retinopathy are rare. The erythrocytes are likely to sickle and cause splenic infarction only in cases of severe hypoxia, such as with flight in unpressurized aircraft.

Sickle cell anemia: This disease is not manifested during the neonatal period because the primary hemoglobin molecule circulating at this time is Hb F (fetal hemoglobin). It is characterized by the substitution of the amino acid valine for glutamic acid at the sixth position of the beta globin chain. Systemic disease is more common and more severe than ocular disease.

Sickle cell-thalassemia disease: This hereditary disorder results from inheriting a sickle cell gene and a beta-thalassemia gene. It can be caused by gene deletions, substitutions, or mutations. Since it results in production of the beta globin chain, most of the synthesized Hb is Hb S. The beta-thalassemias are classified as disorders in which no globin chains are produced or normal globin chains are produced but in diminished quantities. An individual can have 2 types of sickle beta-thalassemia: Hb S betao thalassemia, a severe form with no hemoglobin A production, or Hb S beta+ thalassemia, a form with some Hb A production and, thus, a milder clinical course. Although systemic manifestations are generally mild when compared to Hb SS, ocular manifestations can be severe.

Sickle cell C disease: Hemoglobin C is a variant that results from a single amino acid substitution at the sixth position of the beta globin chain, in this case, lysine for glutamic acid. Patients with sickle cell C disease tend to have mild chronic hemolytic anemia, less frequent sickling crisis, and mild systemic findings. Like sickle cell-thalassemia disease, patients with sickle cell C disease tend to have severe ocular pathologies; they are at an increased risk for developing proliferative retinopathy changes.


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