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Blood, 15 December 2000, Vol. 96, No. 13, pp. 4071-4074
CLINICAL OBSERVATIONS, INTERVENTIONS, AND THERAPEUTIC TRIALS
Molecular characterization of a case of atransferrinemia
Ernest Beutler,
Terri Gelbart,
Pauline Lee,
Reneé Trevino,
Mark A. Fernandez, and
Virgil F. Fairbanks
From The Scripps Research Institute, La Jolla, CA;
Peru, IL; and the Mayo Clinic, Rochester, MN.
Hereditary atransferrinemia is a rare but instructive disorder that
has previously been reported in only 8 patients in 6 families. It is
characterized by microcytic anemia and by iron loading, and can be
treated effectively by plasma infusions. We now report the first case
known in the United States. We determined the sequences flanking the
exons of the human transferrin gene and sequenced all of the exons and
some of the flanking regions of the patient's DNA and that of her
parents. The patient's DNA revealed a 10-base pair (bp) deletion,
followed by a 9-bp insertion of a duplicated sequence. There was also a
G C transversion at complementary DNA (cDNA) nt 1429, predicting that
a proline was substituted for the alanine in amino acid position 477 (Ala 477 Pro). The latter mutation occurs at an evolutionarily highly
conserved site; 704 control alleles were screened and this point
mutation was not found. Each of the patient's transferrin genes
contains one mutation, ie, the patient is a compound heterozygote for
these mutations, because one was found in each of her parents. In
addition to these mutations, which we regard to be causative in the
patient's atransferrinemia, a silent polymorphism at cDNA 1572 GC
was found in exon 13 as well as 2 previously unreported polymorphisms
at IVS8 + 62 ct and IVS14-4 ca. The mutation in nt 1572 and
that in intron 8 were common in the general population; the intron 14 mutation is rare.
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