risk for having a child with P-thalassemia trait.

If one parent
has P-thalassemia trait and the other parent a triplication of
the a-globin gene, this couple could also have a 25% risk for
having a child with P-thalassemia major.
For parents with a-thalassemia trait, their risk for a child
with Hb H disease or hydrops fetalis depends on the nature
of their a-globin mutations. Parents with a-thalassemia trait
can have either the -a/--a or - -laa genotype (see Chapter
11); therefore, depending on their genotypes, all their children
will have a-thalassemia trait (--a.I-a), or they may have a 25%
risk for having a child with Hb H disease (-a/- -) or hydrops
fetalis (- -/- -).
For both a- and P-thalassemia, prenatal diagnosis is pos­
sible by molecular analysis of fetal DNA from either chorionic
villi or amniocytes. Molecular prenatal diagnosis of thalasse­
mia is most efficient if the mutations have already been identi­
fied in the carrier parents. Preirnplantation diagnosis has been
achieved but requires knowing which mutations might be
expected.

Figure C-44 The typical facial appearance of a child with untreated

P-thalassemia. Note the prominent cheekbones and the protrusion of the upper
jaw that results from the expansion of the marrow cavity in the bones of the skull
and face. See Sources & Acknowledgments.

and Hb F (CX2Y2) (which contain other P-like globin chains from

the p-globin cluster), or DNA mutation analysis, or both. In
contrast, a-thalassemia trait is not associated with changes in
Hb A2 or Hb F and is confirmed by DNA mutation analysis
or demonstration of a high p-globin/a-globin ratio.
Treatment of Hb H disease is primarily supportive. Therapy
includes folate supplementation, avoidance of oxidant drugs
and iron, prompt treatment of infection, and judicious trans­
fusion. Splenectomy is rarely required.
Treatment of P-thalassemia includes blood transfusions,
iron chelation, prompt treatment of infection, and frequently REFERENCES
splenectomy. Bone marrow transplantation is the only cur­
rently available cure. Clinical trials are currently under way Cao A. Galanello R. Origa R Beta-thalassemia. Available from http://www.ncbi
for drugs that will increase the expression of fetal hemoglobin, .nlm.nih gov/books/NBK1426/.
which would ameliorate P-thalassemia (but not a-thalassemia) Cao A. Kan YW: The prevention of thalassemia, Cold Spring Harbor Perspect Med
3:a011775, 2013.
(see Chapter 13).
Origa R. Moi P. Galanello R. et al: Alpha-thalassemia. Available from: http://
www.ncbi.nlm.nih.gov/books/NBK1435/.
INHERITANCE RISK
If each parent has P-thalassemia trait, the couple has a 25%
risk for having a child with P-thalassemia major and a 50%