Alpha Thalassemia Questions & Answers

Updated: Oct 16, 2018
  • Author: Alexandra C Cheerva, MD, MS; Chief Editor: Hassan M Yaish, MD  more...
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Questions & Answers

Overview

What are alpha thalassemia (?-thalassemia) syndromes?

What is the pathophysiology of alpha thalassemia (?-thalassemia)?

What is the pathophysiology of alpha(0) thalassemia?

What is the pathophysiology of alpha(+) thalassemia syndromes?

What are silent carrier alpha(+) thalassemia syndromes?

What is the pathophysiology of alpha thalassemia (?-thalassemia) trait?

What is the pathophysiology of hemoglobin H disease (alpha thalassemia intermedia)?

What causes alpha thalassemia (?-thalassemia) syndromes?

What is the prevalence of alpha thalassemia (?-thalassemia) syndromes in the US?

What is the global prevalence of alpha thalassemia (?-thalassemia) syndromes?

What are the age-related predilections of alpha thalassemia (?-thalassemia) syndromes?

What are the sexual predilections of alpha thalassemia (?-thalassemia) syndromes?

What are the racial predilections of alpha thalassemia (?-thalassemia) syndromes?

What is the prognosis of alpha thalassemia (?-thalassemia) syndromes?

What is included in patient education about alpha thalassemia (?-thalassemia) syndromes?

Presentation

What are the characteristic clinical history and physical findings of alpha thalassemia (?-thalassemia) silent carrier?

Which factors affect the clinical presentation of alpha thalassemia (?-thalassemia) syndromes?

What are the characteristic clinical history and physical findings of alpha thalassemia (?-thalassemia) trait?

What are the characteristic clinical history and physical findings of hemoglobin H disease (alpha thalassemia intermedia)?

What are the possible complications of hemoglobin H disease (alpha thalassemia intermedia)?

What are the characteristic clinical history and physical findings of hydrops fetalis (alpha thalassemia major)?

What are the characteristic clinical history and physical findings of alpha thalassemia (?-thalassemia) mental retardation syndromes?

What are the characteristic clinical history and physical findings of alpha thalassemia (?-thalassemia) myelodysplastic syndrome?

What is the morbidity and mortality associated with alpha thalassemia (?-thalassemia) syndromes?

DDX

How is alpha thalassemia (?-thalassemia) diagnosed and treated during pregnancy?

Which conditions should be considered in the differential diagnosis of alpha thalassemia (?-thalassemia) syndromes?

What are the differential diagnoses for Alpha Thalassemia?

Workup

How is alpha thalassemia (?-thalassemia) differentiated from iron deficiency anemia?

Which lab findings suggest alpha thalassemia (?-thalassemia) silent carrier?

Which lab findings suggest alpha thalassemia (?-thalassemia) trait?

Which lab findings suggest hemoglobin H disease (alpha thalassemia intermedia)?

Which lab findings suggest hydrops fetalis (alpha thalassemia major)?

Which lab findings suggest alpha thalassemia (?-thalassemia) with sickle-cell anemia?

What is the role of hemoglobin electrophoresis in the workup of alpha thalassemia (?-thalassemia) syndromes?

What is the role of imaging studies in the diagnosis of alpha thalassemia (?-thalassemia) syndromes?

What is the role of genetic testing in the workup of alpha thalassemia (?-thalassemia) syndromes?

Which histologic findings are characteristic of alpha thalassemia (?-thalassemia) syndromes?

Treatment

How are alpha thalassemia (?-thalassemia) syndromes treated?

What is the role of iron supplementation in the treatment of alpha thalassemia (?-thalassemia) syndromes?

What is the role of folic acid supplementation in the treatment of alpha thalassemia (?-thalassemia) syndromes?

What is included in general supportive care for hemoglobin H disease (alpha thalassemia intermedia)?

How is the risk of infection reduced in patients with alpha thalassemia (?-thalassemia) syndromes?

What is the role of hematopoietic stem cell transplantation (HSCT) in the treatment of alpha thalassemia (?-thalassemia) syndromes?

What is the role of surgery in the treatment of alpha thalassemia (?-thalassemia) syndromes?

How are alpha thalassemia (?-thalassemia) syndromes prevented?

Which specialist consultations are beneficial to patients with alpha thalassemia (?-thalassemia) syndromes?

Medications

Which medications are used in the treatment of alpha thalassemia (?-thalassemia) syndromes?

Which medications in the drug class Chelation agents are used in the treatment of Alpha Thalassemia?

Which medications in the drug class Vitamins are used in the treatment of Alpha Thalassemia?