Case scenario:
A 32-year-old female patient, gravida 4 para 3,
27th week pregnant, presented to the emergency
department complaining of palpitation and generalized weakness for two
weeks. She denied any other complaint. There was no history of bleeding
from any site.
In response to a further question, she revealed a previous history of
recurrent anaemia, which only occurred during pregnancy. The anaemia
usually occurs in the third trimester, becomes severe and symptomatic,
reaches a minimum hemoglobin level of 4 g/dl, and requires frequent
transfusion, but it gradually recovers to a normal level 4 weeks after
delivery without any intervention.
The family history is negative for any blood disease or malignancy. The
patient was not taking any regular medications other than iron and folic
acid supplements, nor was she a smoker or an alcoholic
Vital signs recorded as BP: 105/55 mm Hg, heart rate: 107 beats/min,
temperature: 36.8 C, and respiratory rate: 18/min. On physical
examination, she looked tired and pale, with no jaundice or cyanosis,
and no organomegaly or palpable lymphadenopathy. Other systems,
including fetal examination were unremarkable.
Complete blood count showed severe anaemia with haemoglobin of 4.2 gm/dL
(12.0-15.0 gm/dL), Hct 13% (36-46%), with normal MCV of 90.3 fl
(83-101 fl), and MCH of 29.2 pg (27-32 pg). The CV-RDW was increased,
26.0% (11.6-14.5%). Platelets was normal 232.0
x10^3/ uL (150-400 x10^3/ uL)
with normal WBC of 6.4 x10^3/ uL (4.0-10.0
x10^3/ uL) and normal deferential. Peripheral smear
showed red cells which were mostly normochromic with some hypochromic
cells, otherwise unremarkable with no overt evidence of dysplasia.
Full anaemia workup was done which revealed low reticulocyte count of 13
x10^3/uL (50-100 x10^3/uL
). Iron profile, B12 and folate level were within normal range.
Haptogloin and Hb electrophoresis were normal and LDH was not raised.
In view of the unexplained recurrent severe anaemia, a bone marrow
examination was discussed with patient, who consented to the procedure.
Bone marrow (BM) aspirate was cellular and showed mildly increased
megakaryocytes with rare small or hypolobated forms, active
granulopoiesis with maturation to segmented cells and including few with
vacuolation and few with cytoplasmic hypogranulation and there was
adequate number of erythroid precursors with mixed normoblastic and
megaloblastoid maturation with few showing nuclear lobation and
karyorrhexis. Cytoplasmic vacuolation was noted in substantial number of
the early erythroid precursors and poorly developed cytoplasm and
vacuolation in late precursors (figure 1). There was no increase in
blasts. The BM biopsy was hypercellular with approximately (75-80%
cellularity) with active granulocytic cells, adequate erythropoiesis,
and increased megakaryocytes. There was no increase in CD34-positive
blasts by immunohistochemistry. Most of the biopsy showed no increase in
reticulin fibers (MF0) with few focal areas of mildly increased fibers
(MF1). Prussian blue stain on bone marrow aspirate smear, revealed
increased Iron in the stores and in the erythroblasts with the presence
of many ring sideroblasts comprising approximately (31%) (figure 2).
The overall findings concluded the diagnosis of sideroblastic anaemia
Chromosomal analysis showed normal karyotype and Fluorescence in situ
hybridization (FISH) revealed normal hybridization pattern for 5q & 7q
deletion.
Following the diagnosis of SA on the bone marrow, further investigations
were conducted, including tests for copper, zinc, lead and
pyridoxine(B6) levels, as well as molecular analysis for theSF3B1 mutation. All tests came back normal except for a very low
level of B6 at 8 nmol/L (20-121 nmol/L).
Considering all the above findings, the case was diagnosed as a case of
acquired SA secondary to pyridoxine deficiency in pregnancy and she was
started on B6 supplements. With B6 replacement, haemoglobin levels
improved to a range of 7-8 gm/dL without transfusion support and patient
still under follow up monitoring.