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Sickle cell-thalassemia presenting as arthritis of the hip.

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Sickle Cell-Thalassemia Presenting as Arthritis of the Hip
David Hurwitz and Henry Roth
Avascular necrosis of the humeral and femoral heads is reported in an otherwise
asymptomatic 69-year-old woman with sickle cell-thalassemia. Ten previously
reported instances of avascular necrosis in patients with sickle cell-thalassemia
are briefly reviewed.
aseptic necrosis of the femur or humerus in
3 of 4 patients with sickle cell-thalassemia.
Golding et a1 (4), in their study of 72
Aseptic necrosis of the femoral heads is a
frequent complication of sickle cell anemia
and its variants, although a n associatioii
with the monozygous trait is still disputed
(1). Aseptic necrosis in patients with sickle
cell-thalassemia was reported by Reich and
Rosenberg (2). They described 2 Caucasian patients of Sicilian extraction who had
well-documented progressive destruction of
both hip joints. A third patient, a young
Negro woman, may have had sickle cellthalassemia, but the diagnosis was not
firmly established.
I n 1954 Smith and Conley (3), in a
discussion of sickle cell anemia and its
variants, referred briefly to the presence of
From the Georgetown University School of Medicine, Rheumatology Unit, Georgetown University
Medical Division, District of Columbia General
Hospital, Washington, DC.
Supported in part by Arthritis Foundation Clinical Research Center grant.
DAVID HURWITZ,MD: Resident in Medicine.
Wadsworth Hospital, Veterans Administration Center, Los Angeles, Calif. HENRY
ROTH, MD: Assistant
Professor of Medicine, Georgetown University School
of Medicine, Chief, Rheumatology Unit, Georgetown University Medical Division, PO Box 82, District of Columbia General Hospital, Washington,
DC 20005.
Reprint requests should he addressed to Dr. Roth.
Srihmittetl for publication March 2, 1970; accepted April 18, 1970.
422
Jamaican patients with various sickle cell
syndromes, found 2 patients with sickle
cell-thalassemia. Femoral head necrosis was
noted in only 1 of these, and in this patient
it was unilateral.
Chung and Ralston (5), in a recent
discussion of femoral head necrosis associated with sickle cell anemia and its variants, reported 2 additional male patient
with well-documented sickle cell-thalassemia. Both of these patients were observed
relatively early in life (18 and 36 years),
and u p to the time of the report only a
single hip joint had been affected in each
case.
T h e case reported herein is of interest in
that end-stage bilateral hip joint destruction appeared to be the only clinical
manifestation of the patient’s disease.
CASE REPORT
VS, a 69-year-old Negro woman, presented herself
at the Rheumatology Clinic complaining of difficulty in walking. She had noted low-grade bilateral hip
pain during the preceding 29 years with gradually
progressive lass of hi,p joint mohility. Apart from
these complaints she had been entirely well
throughoiit her life and had never sought nietlical
Arthritis and Rheumatism, Vol. 13, No. 4 (July-August 1970)
attention. She had no complaints referable to any
other organ or organ system in the body and felt
herself to k otherwise in excellent health. She had
not been aware of pain or limitation in any other
joint and denied shortness of breath or exertion
intolerance. She had never had a blood transfusion.
A maternal aunt was said to have had some form of
arthritis, but all of the patient’s other relatives were
reported to be free of arthritis or any blood disease.
(There was some reason to question the accuracy of
the history related by the patient, but no relatives
could be traced for interviewing or investigation.)
Physical examination revealed a thin, elderly
woman of normal stature and in good general
condition. She had a shuffling gait, which was
painless but depended entirely on knee movements
for propulsiou. Hcr I ~ l o o c ipressure was 240/130, her
pulse was 88. The optic fundi showed severe
arteriosclerosis but no hemorrhages, exudates or
infarcts. The heart was moderately enlarged with
the maximum impulse near the anterior axillary
line in the fifth intercostal space. An atrial filling
sound and a grade 2/6 systolic ejection murmur
were audible. The lungs were somewhat hyperresonant but not othriwise abnormal. The liver and
spleen were not palpable.
The range of motion of the lower spine was
decreased, and the lumbar lordosis was exaggerated. The pelvis was tilted about 15O to the right, and
there was a mild scoliosis in association with this.
The peripheral limb joints presented no notable
abnormalities. The right shoulder lacked complete
Fig 1. X-ray of pelvis shows destructive changes in both hip joints. Both femoral heads are deformed by
multiple areas of avascular necrosis with resorption and remolding of femoral heads, obliteration of
cartilage space, and dense sclerosis of surrounding bone.
Arthritis and Rheumatism, Vol. 13, No. 4 (July-August 1970)
423
abduction by 40° but was not painful or deformed.
The left shoulder had a normal range. T h e right
hip joint was virtually fixed in a position of
adduction, internal rotation, and flexion ( 2 0 O ) . It
allowed only a trace of motion but was entirely
painless. The left hip joint was completely immobile, in a relatively neutral position with 1 5 O of
flexion.
The hematocrit was 33%; the leukocyte count was
5,700 cu mm, with a normal differential distribution. The bentonite flocculation test was negative.
Urinalysis was normal; the specific gravity of a
random specimen was 1.OX).
Paper electrophoresis
revealed two hemoglobin Components; the major
component had a mobility identical to Hemoglobin
S, and the minor component had a mobility
identical to Hemoglobin A. On starch gel electrophoresis, four hemoglobin components were sepa-
Fig 2. X-ray of hurneral head with bone condensation analogous to hip changes.
424
Arthritis and Rheumatism, Vol. 13, No. 4 (July-August 1970)
SICKLE CELL-THALASSEMIA
rated into the following proportions: Hemoglobin
S-56.20/,; Hemoglobin A1-5.7%;
Hemoglobin A,
-33.9y0; Hemoglobin F-4.2Yo. The reticulocyte
count was 1.2yo.
An x-ray of the pelvis (Fig 1) revealed severe
destructive changes in both hip joints. Both femoral heads were extensively deformed by multiple
areas of avascular necrosis with resorption and
remolding of femoral heads, obliteration of cartilage
space, and dense sclerosis of the surrounding bone.
Small areas of bone condensation, analogous to but
much milder than the hip changes, were also visible
in both humeral heads (Fig 2 ) . Examination of
other long bones did not reveal any of the trabecular sclerosis or condensation frequently seen in
older patients with homozygous sickle cell disease.
DISCUSSION
Although asymptomatic, except for articular manifestations, this patient fulfills the
electrophoretic criteria for the diagnosis of
sickle cell-thalassemia (elevated A, fraction, more S hemoglobin than A, hemoglobin. and an increased amount of hemoglobin F) (6). T h e destructive hip changes
noted at the time the patient was first
evaluated were already so advanced that
they could have represented end-stage degeneration resulting from any one of n
variety of inciting causes. However, their
symmetrical nature, the associated symmetrical shoulder changes, and descriptions of
similar associations by other observers suggest to us that this patient’s joint disease
was a complication of her hematologic
disorder. T h e likelihood of such a n association was pointed out earlier by Reich and
Rosenberg (2), who reported 3 patients
arid presented a discussion of the pathophysiology involved. I n all, we have been
able to discover 10 published instances of
avascular necrosis of the hip observed in
patients with sickle cell-thalassemia in addition to the present case. Since the prevalence oE avascular necrosis is unknown in
Arthritis and Rheumatism, Vol. 13,
No.
the general population, and has not been
studied prospectively in patients with sickle
cell-thalassemia, epidemiologic proof of a
true association is lacking. T h e case reported herein may serve as additional evidence
that sickle cell-thalassemia can be complicated by the same bone changes of thrombosis and infarction known to characterize
sickle cell-hemoglobin C disease. This case
also illustrates that hematologic investigation of patients with hip joint destruction
of unknown cause can be rewarding.
ACKNOWLEDGMENT
T h e authors are grateful to Dr. Paul McCurdy, Associate Professor of Medicine, Georgetown University School of Medicine, a n d Medical Officer (Hematology), DC General Hospital.
For kindly providing identification of hemoglobin components.
4 (July-August 1970)
REFERENCES
1. Blau S, Hamerman D: Aseptic necrosis of
2.
3.
4.
5.
6.
the Femoral heads in sickle-A hemoglobin
disease. Arthritis Rheum 10:397-402, 1967
Reich RS, Rosenberg NJ: Aseptic necrosis
of bone in Caucasians with chronic hemolytic anemia due to combined sickling and
thalassemia traits. J Bone Joint Surg 35A:
894-904, 1953
Smith EW, Conley CL: Clinical Features of
the genetic variants of sickle cell disease.
Bull Johns Hopkins Hosp 94289-518, 1954
Golding JSR, MacIver JE, W e n t LN: T h e
bone changes in sickle cell anemia and its
genetic variants. J Bone Joint Surg 41B:
711-718, 1959
Chung SMK, Ralston EL: Necrosis of the
Femoral head associated with sickle cell
anemia a n d its genetic variants. J Bone
Joint Surg 51A:33-58, 1969
Monti A, Feldhake C, Schwartz SO: The
S-thalassemia syndrome. Ann NY Acad Sci
119:474-484, 1964
425
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