Hemoglobin SS Nigerian woman first diagnosed at the age of 52 years with manifestation mimicking tuberculosis of the spine.

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Date: March-April 2020
From: Nigerian Medical Journal(Vol. 61, Issue 2)
Publisher: Medknow Publications and Media Pvt. Ltd.
Document Type: Article
Length: 2,480 words
Lexile Measure: 1480L

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Byline: Ngozi. Ugwu, Emmanuel. Nna, Agama. Egwu, Ejike. Okoye

Sickle cell anemia (SCA) is an inherited disorder of hemoglobin due to the presence of abnormal hemoglobin in a homozygous state. Manifestation is usually in infancy or early childhood due to gradual decrease in hemoglobin F level as age advances. Diagnosis in middle age is unusual. We present a woman who was diagnosed of SCA for the first time at middle age. The aim was to bring to the knowledge of physicians that patients with SCA can also present late so high index of suspicion is required to make diagnosis. A 52-year-old woman presented to orthopedic clinic with complaints of generalized bone pain and low back pain. There was no history of trauma prior to the onset of the pain. There was no associated fever, weight loss, loss of appetite, nor weakness of the lower limbs. X-ray of the spine done showed wedge collapse of the 12th thoracic and first lumbar vertebrae with posterior angulation of the thoracolumbar junction giving dorsal kyphosis. Her mode of presentation raised a suspicion of tuberculosis of the spine to rule out multiple myeloma. However, investigations for tuberculosis and multiple myeloma were all negative. This necessitated the investigation for SCA and the diagnosis was confirmed. The diagnosis of SCA is usually made in infancy or early childhood. High index of suspicion is required to make the diagnosis at middle age.

Introduction

Sickle cell anemia (SCA) is an inherited disorder of hemoglobin due to the presence of abnormal hemoglobin in a homozygous state. Clinically, SCA is characterized by episodes of acute illness referred to as crisis and progressive end-organ damage and disfunction.[1] The World Health Organization has designated sickle cell disease (SCD) as a global public health problem.[2] Over 300,000 infants with SCD are born annually; and about 70% of the affected births are in sub-Saharan Africa, where access to medical care and public health strategies to decrease the mortality and morbidity are not uniformly available.[2]

Nigeria has the highest population of people affected with SCA in the world with prevalence that ranges from 2% to 3% and contributes substantially to child morbidity and mortality.[3] About 25% of the population has the sickle cell trait, and about 150,000 births are affected annually by sickle cell disorder.[3] SCA is caused by a mutation in the S-globin gene located on the short arm of chromosome 11, in which adenine replaces thymine in the 17th nucleotide resulting in glutamic acid being replaced by valine in the 6th position of ß-globin chain. In deoxygenated state, the sickle hemoglobin (HbS) precipitates and forms crystals which grow and form polymers within the erythrocyte, thereby distorting its wall architecture, shape, and malleability.[4] This results to change in shape of the affected erythrocyte from the normal biconcave to sickle shape from where this disorder derived its name. This change in architecture makes the red blood cells less flexible to pass through microvasculature easily and are, therefore, vulnerable to destruction (hemolysis) by the reticuloendothelial cells as...

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Gale Document Number: GALE|A623903192