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HEMOGLOBINOPATHIES
-sickle cell and thalassemia-
Wedn,13th
. Jan.2021.
Presenter: dr. feksi - Resident sem.3
supervisor: dr. lilian- speciacist radiologist.

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OUTLINE
Introduction
Clinical features
Imaging features
Differential diagnosis
References.

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INTRODUCTION
Inherited, autosomal recessive genetic conditions.
Sickle cell ( Qualitative Defect), Thalassaemia (Quantitative Defect).
Sickle cell condition results from a single amino acid substitution
( valine for glutamic acid) at position 6 of B-globin gene.
Forms: Hemoglobin(Hb F, A, S, C, thal)
Thalassaemia –Ineffective erythropoiesis results to reduced erythroblast
maturation and early death of red cell precursors.
a-thalassaemia and b-thalassaemia

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INTRO….epidemiology.
No gender predilection.
Sickle cell condition highest in Africa, Middle East and Mediterranean
countries. In black Americans reported to occur 3cases in every 1000 live
births.
B-thalassemia highest in Mediterranean, parts of Africa and Asia.
a-thalassemia highest amongst people from Asia.
They contribute to mortality and morbidity and life span ranges
30 to 45 years.

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CLINICAL PRESENTATIONS.
Anemia*
Vaso-oclussive crises
Muscle/Bone pain*
Brain-stroke, cognitive impairment.
Pulmonary-Acute chest syndrome, Recurrent pneumonia/Chronic lung
diseases (impaired immunity due to functional asplenia)
Abdomen- abdominal pain, sequestration syndrome.
Others.
 Impaired immunity from autosplenectomy
 Leg ulcers
 Priapism
 Renal failure
 Ocular and orbital complications.

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IMAGING MODALITIES.
Plain Radiography
CT-Scan
MRI
USS
Bone Scientigraphy

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IMAGING FEATURES.
Marrow hyperplasia.
SKULL-Cortical thinning,Osteopenia,Hair on End sign, Thinning of outer table skull , widening
diploic space.
SPINE-H-Shaped VB, Fish mouth sign, Vertebral collapse with resultant kyphosis.
LONG BONES-widening medullary space,
Obliteration of paranasal sinuses
Maxillary alteration( hypertelorism, malocclusion of jaws)
Displacement of dental structures ( Rodent facies)
Erlenmeyer flask deformity( in long tubular bones)
Growth defect/Premature fusion of growth plate.
Osteosclerosis
Osteonecrosis.
Infection:Dactylitis,Periostitis,Osteomylitis.
Fructure secondary to osteoporosis/Infection.

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Marrow hyperplasia.
Normal scan Hair on end

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Marrow hyperplasia.
Normal scan
Fish Mouth &
H- Vertebrae

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Marrow hyperplasia
Normal scan Widening medullary space

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Growth defect
Normal scan. Epiphyseal/carpal deformity.

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Dactylitis
Physical examination Hand foot syndrome

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Acute osteomyelitis/Infarction
Acute bone infarction. Axial T2-weighted
MR images of the femur in a 13-year-old
boy with leg pain.
RIGHT:
Initial image shows regions of both high and
low signal intensity within the medullary
cavity and high signal intensity in the vastus
intermedius muscle, features that may
represent either infarction or infection.
Infection was not suspected clinically.
LEFT:
Follow-up image obtained after 4 weeks of
standard management shows resolution of
the area of low signal intensity within the
medullary cavity and the area of high signal
intensity in the adjacent muscle, a finding
indicative of infarction.

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Infarction
Infarction in a 12-year-old boy with
homozygous sickle cell disease, left tibial
pain, and a lowgrade fever. Medial (left) and
lateral (right) views of the left (L) tibia from
late static phase 99mTc MDP scintigraphy
show an area of decreased tracer uptake
within the proximal shaft (arrowheads), a
finding suggestive of infarction
Anterior views of both tibiae (a) and
bothankles (b) from 99mTc
hexamethylpropyleneamine oxime–labeled
leukocyte imaging .The appearance of
increased radiotracer uptake localized to
the region of the left (L) ankle (arrowhead
in b) supports a diagnosis of infection. The
incidentally observed absence of activity in
the upper shaft of the left tibia (arrow in a)
is indicative of bone infarction.

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Differential diagnosis: Myelofibrosis
Coronal CT of the chest demonstrating extra
medullary hematopoiesis in the posterior
mediastinum, which typically appear as bilateral
and symmetrical posterior mediastinal masses
(white arrows)
Extra medullary hematopoiesis. T2-weighted
coronal (a) and sagittal (b) MR images of the
thoracolumbar spine in a 47-year-old woman
show a right-sided paravertebral soft-tissue mass
(arrow). The mass had intermediate signal
intensity on both T1- and T2-weighted images,
similar to the signal intensity of normal
intramedullary hematopoietic tissue. Vertebral
endplate depression due to central infarction
also is depicted.

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Differential diagnosis: Multiple Myeloma

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Differential diagnosis: Paget’s Disease
 Intensification of the trabeculae and increased bone
density along the iliopubic(1) and ilioischial(2).
The symphysis pubis is thinned with sclerosis in the
pubic bobes(3)
The pagetic involvement of the hip has produced
arthosic changes of the right coxo-emoral joint with
protrusion of acetabulum(arrows).
(BRIM SIGN)
 COTTON WOOL APPEARANCE.
( TAM O’ SHANTER SIGN)

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Summary.
Bone abnormalities in SCA result secondary to marrow
hyperplasia and episodes of ischemia leading to infarction
Clinical presentations have a great role in excluding
differential diagnosis.
Multiple modalities can be used in conjunction with one
another to image these bony changes.

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References.
Radiopedia
Musculoskeletal Manifestations of Sickle Cell Disease, Vivian C. Ejindu,
MRCP, Andrew L. Hine, FRCR, Mohammad Mashayekhi, FRCR, Philip J.
Shorvon, FRCR, and Rakesh R. Misra, FRCR
Principles of diagnostic radiology, William E Brant, 4th
edition
Radiologic Manifestations of Bone Disease in Sickle Cell Anemia. Oni J.
Blackstock, HMS III, Gillian Lieberman, MD

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