CASE REPORT
HEREDITARY SPHEROCYTOSIS IN A 27-YEAR-OLD
WOMAN: CASE REPORT
Abstract
Hereditary spherocytosis (HS) is a familial hemolytic disorder with marked heterogeneity of clinical
features, ranging from an asymptomatic condition to a fulminant hemolytic anemia. Although a positive
family history of spherocytosis increases the risk for this disorder, it may be sporadic in some cases. In
severe cases the disorder may be detected in early childhood, but in mild cases it may go unnoticed
until later in adult life. A 27-year-old Nigerian woman
read more presented with mild anemia, jaundice,
read more presented with mild anemia, jaundice,
splenomegaly and a history of multiple blood transfusion. Blood film showed about 70% spherocytes,
reticulocytosis of 6.5%, increased osmotic fragility test and a negative direct antiglobulin test. She was
managed conservatively on nutritional supplements and a significant regression of symptoms after 6
months was achieved.
Hereditary spherocytosis (HS) is a rare inherited
red blood cell membrane disorder that is characterized by spherically shaped red blood corpuscles on peripheral blood smear.
Hereditary spherocytosis was described initially in 1871.It is the most common inherited hemolytic anemia in
Caucasians with an incidence of 1: 2500-5000 population.
It also occurs in people of African and Mediterranean descent accounting for 1: 2000 of the population.
Most cases are inherited in an autosomal dominant fashion. Approximately 25% of cases are discovered in persons who have no family history of HS; these cases may represent spontaneous mutations or recessive forms of the disease.
Calculations indicate that the HS silent carrier state might exist in 1.4% of the population.
This case is reported in view of the rarity of this disorder coupled with the few specialists (Haematologist) to diagnose and manage such a disorder in our environment. It is hoped that this
report will bring increase awareness on the existence of HS in our environment and hence an increase index of suspicion and prompt referral to avoid unnecessary use of blood transfusion.
Case report
A 27-year-old woman presented with recurrent abdominal swelling, stunted growth relatively to her
siblings and age groups. She has had four units of blood transfusion in childhood; her last transfusion
was 10 years prior to presentation. She also has recurrent yellowish discoloration of the eyes. No
family history of sickle cell disease.
Examination revealed a young lady, with a small and short stature, mildly pale, moderately jaundiced
and has a gnathopathy. The spleen was enlarged by 6cm below the right costal margin but the liver was
not palpably enlarged.
Laboratory investigation shows a haematocrit of 0.27 (Hb 9g/dL), white blood cell count of 6.2x10/L,
platelet count of 201x10/L, MCV of 75µm reduced, MCHC of 37g/dl (31.5-35) increased.
Peripheral blood smear showed a predominance of spherocytes constituting over 70% of the red blood cells (Figure 1). The white cell and platelets are of normal morphology. Her genotype was AA. A high reticulocytes count of 6.5% was obtained. A direct antiglobulin test was then performed which was
negative but the osmotic fragility test was increased.
The diagnosis of hereditary spherocytosis was then made and the patient was counseled and placed on
folic acid supplementation and a three monthly follow up visit. After six months, her clinical state
improved with jaundice decreasing to just a tinge, the spleen regressed to 2cm while the packed cell
volume increased to 0.30 (Hb 10 g/dL).
Figure 1. Peripheral blood smear showing Spherocytes (absence of area of central pallor of
erythrocyte)
Discussion
Hereditary Spherocytosis is the commonest inherited red cell membrane disorder. It is generally a rare disease world wide.
This is confirmed by thisreport of one case over a period of fifteen years in Ahmadu Bello University Teaching Hospital, Zaria,
although this patient was a youth corp member from the eastern part of Nigeria, who was posted to the
Northern part of the country. Oluboyede et al in 1976 reported five cases at University college hospital,
Ibadan.
The incidence and prevalence in other ethnic groups in Nigeria have not been clearly established as reported by Oluboyede et al but he proposed that since the cases came from widely separated area, no ethnic group has more predilection than others.Hereditary Spherocytosis results from primary red cell membrane cytoskeleton defect.
Spectrin
deficiency is the most common defect. The defects are associated with a variety of mutations that result in different protein abnormalities and varied clinical expression. Most cases of HS are heterozygous
because homozygous states are lethal.
In pedigrees
that have a dominant defect, affected family members tend to have similar degrees of hemolysis
and clinical severity.
Regardless of the molecular basis for a case of HS, the resulting spherocytes become trapped in the
spleen as they course through the sinuses, and the red cells are engulfed by macrophages.Several reports and text books have associated a triad of anemia, jaundice and splenomegaly to the morphological findings of spherocytes as the hallmark to the diagnosis of HS as was the finding in this case.
Our diagnosis was supported by an increased osmotic fragility and a negative direct comb’s test, although a negative result may be obtained especially for osmotic fragility where a high reticulocytes count of more than 10% interferes with the test.
The clinical presentation of this patient is similar to those cases reported at Ibadan and other
parts of the World.
In the first few postnatal months, anemia can develop in children who do not mount an adequate
reticulocyte response.
In later childhood, HS can present with anemia, jaundice, and splenomegaly.
Affected patients may have mild, moderate, or severe anemia. Children who have moderate-tosevere
anemia may have poor exercise tolerance, poor growth, and academic difficulties.
Older individuals develop bilirubin stones and may present
with cholecystitis.
It is often not uncommon for the diagnosis to be missed until adult hood.
The peripheral blood smear in HS shows numerous spherocytes. Larger bluish cells (polychromasia) also
may be seen. The complete blood count (CBC) and reticulocyte count reveal a low hemoglobin
concentration and elevated reticulocyte count.
The mean corpuscular hemoglobin concentration is usually high at greater than 35 g/dL (350 g/L). The
mean corpuscular volume may be low or high if there is substantial reticulocytosis.Hereditary spherocytosis.
The test of osmotic fragility can be useful in establishing the diagnosis of HS. Spherocytes have
reduced cell membranes and thus they swell at higher concentrations of saline than do normal red
cells. The direct antiglobulin (coombs) test is usually negative. Other test include elevated unconjugated
bilirubin, elevated lactic dehydrogenase, and low haptoglobin levels. However, these findings are
associated with any case of haemolysis and are not specific for HS.
A family study could not be carried in this case since her family resides in the Eastern part of the country. However she denied any member of the family with neither a similar history nor physique.Thus this may be recessively inherited or sporadic as it occurs in 25% of cases or a silent carrier state, as it has been suggested to exist in 1.4% of the population.
The patient was managed conservatively with nutritional supplementation consisting of folic acid,
ascorbic acid and paludrine for prophylaxis against
malaria. The red cell transfusion she had before
Haematologist review may have been avoided if a
definitive diagnosis was made and appropriate
therapy instituted and the effect on growth pattern
and the risk of allogeneic blood transfusion would
have been limited. Specific indications for transfusion
include exacerbation of anemia due to blood loss
such as related to trauma or surgery, hypersplenism,
and infection with parvovirus B19.
Cure is achieved
with splenectomy
but there was no indication for
this in our patient. Splenectomy is carried out in
cases with severe anemia and extramedullary
hematopoiesis.
Complications of hereditary spherocytosis include
pigment gallstones, aplastic, haemolytic and
megaloblastic crises, poor growth, skeletal
deformities, and less commonly skin ulceration,
chronic dermatitis.
Although HS is rare it does occur in our
environment and when suspected hematological
assessment is necessary to avoid diagnostic pitfalls
and mismanagement.
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Annals of African Medicine | Volume 8, No. 1, March 2009
Page | 63
