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Combined spectrin and ankyrin deficiency is common in autosomal dominant
hereditary spherocytosis
P Savvides, O Shalev, KM John and SE Lux
Division of Hematology/Oncology, Children's Hospital, Boston, MA 02115.
The common autosomal dominant form of hereditary spherocytosis (HS) has
been genetically linked to defects of the erythroid ankyrin gene in a few
families; however, the frequency of ankyrin deficiency and its relationship
to red blood cell (RBC) spectrin content are unknown. To test these
questions, we measured RBC spectrin and ankyrin by radioimmunoassay in 39
patients from 20 families with dominant HS. Normal RBCs contained 242,000
+/- 20,500 spectrin heterodimers and 124,500 +/- 11,000 ankyrins per cell.
In dominant HS, RBC spectrin and ankyrin ranged from about 40% to 100% of
normal and were continuously distributed. Measurements in the same patient
on different occasions were reproducible (+/- 5% to 10%) and RBCs from
affected members of a kindred contained similar amounts of spectrin and
ankyrin (+/- 3% to 4%). Spectrin and ankyrin levels were almost always less
than the assay controls, but were less than the normal range in only 75%
and 80% of kindreds, respectively. Remarkably, the degree of RBC spectrin
and ankyrin deficiency was very similar in 19 of 20 HS kindreds. One
otherwise typical family differed, with marked ankyrin deficiency (45% of
control) and a relatively mild spectrin deficit (81%). We conclude that
most patients with dominant HS have combined ankyrin and spectrin
deficiency and that the two proteins are usually about equally deficient,
suggesting that defects in ankyrin expression, ankyrin stability, or
ankyrin band 3 (AE1) interactions may be common in dominant HS.
Volume 82,
Issue 10,
pp. 2953-2960,
11/15/1993
Copyright © 1993 by The American Society of Hematology
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