The patient in the question stem suffers from Beta-thalassemia major (or Cooley's anemia), in which the Beta-chain is completely absent.
Beta-thalassemia major manifests when patients are homozygous for the disease, which causes a significant deficiency in Hb A and beta chain production, resulting in severe hemolysis and ineffective erythropoiesis. Babies with this disorder appear normal at birth because of the prevalence of fetal hemoglobin (two alpha chains and two gamma chains); however, as fetal hemoglobin disappears, symptoms become more prevalent. As a result of frequent hemolysis, iron levels increase and deposition begins in multiple organ systems. Beta-thalassemia is more common among individuals of Mediterranean descent.
Muncie and Campbell report that beta-thalassemia results in hemolytic anemia, poor growth, and skeletal abnormalities during infancy. They further note that affected children will require regular lifelong blood transfusions, where those with intermedia or minor type beta-thalassemia might only require episodic blood transfusions. The more frequently patients are transfused, the quicker they will develop iron overload and require chelation therapy to remove the excess iron. Bone marrow transplants have demonstrated promise in curing some children with beta thalassemia major.
Galanello and Origa discuss the epidemiology of beta-thalassemia reporting that the total annual incidence of symptomatic individuals is approximately 1:100,000 globally and 1:10,000 within the European Union. They report that beta-thalassemia is in most cases an autosomal recessive disorder that occurs as a point mutation or rarely as a deletion in the beta globin gene on chromosome 11. Diagnosis of thalassemia is based on hematologic and molecular genetic testing.
Illustration A shows the contribution of chromosome 11 and 16 to the 2 beta and 4 alpha chains of hemoglobin, respectively.
Answer 1: Absence of the hemoglobin alpha-chain characterizes the most severe form of alpha-thalassemia.
Answer 3: All humans are born with fetal hemoglobin. The presence of fetal hemoglobin is not specifically characteristic of any disorder. In fact, the presence of fetal hemoglobin persists in many of these patients longer than in individuals without thalassemia and provides some survival advantage.
Answer 4: The mutation described would be responsible for hemochromatosis, which is secondary to an intrinsic defect in the body's ability to control iron absorption.
Answer 5: An aberration in copper absorption is responsible for Wilson disease, not beta-thalassemia.
HERBERT L. MUNCIE, JR., MD, and JAMES S. CAMPBELL, MD. Alpha and Beta Thalassemia. Am Fam Physician. 2009 Aug 15;80(4):339-344.
PMID:19678601 (Link to Abstract)
Galanello R, Origa R. Beta-thalassemia. Orphanet J Rare Dis. 2010 May 21;5:11.
PMID:20492708 (Link to Abstract)