Department of Biochemistry
University of Jos

Clinical demonstration

 


Sickle cell disease history video

Mr X Michael, 21 year old undergraduate studying Geography at the University of Jos.

He is Berom by tribe and was born in Jos 21 years ago.

 Complain of

  •       Pain in the back, and left leg for 2 days without stopping.

  •       Fever for 2 days

  •       Yellow eyes 2 days

  •       Blood in urine for 5 days

  •       Pain in the chest for one day

 History of Presenting complaint

The patient is a known sickler and this as diagnosed  6 months after birth when the mother took him to hospital because he developed fever and painful and swollen knuckles. Since then he has been having illnesses especially during the rainy seasons which included cough, fever and pains in the body and joints. This present illness started two days ago when he developed fever, pains in the joints and yellow eyes together with severe pains in the chest yesterday. He has been given chloroquine tablets (4) but this has not assisted or made his pains less. His breathing has become labored since yesterday and very fast. He now complains of pains in the chest, back and left leg.

 Family History:

He is the first child of his parents who met 22 years ago in this Jos. The mother hails from Oturkpo in Benue State of Nigeria while the Father is from Berom. The parents have no history of sickle cell disease in their families.

 Systemic Review

GU-Patient seems to have blood in urine constantly since 10 years ago. He has cough an chest pain in all rainy season especially in July to October.

GIT- He has no problems with eating and defecating,  but sometimes, especially when he has fever, looses his appetite.

On examination

He was found to be pale and jaundiced by examination of the conjunctival mucous membranes. He was not dehydrated and there is no evidence of subcutaneous edema. He is  6 feet tall and his weight is 21 kilograms.

Examination of the face and skull shows frontal bossing

 

Examination of the chest shows barrel shaped chest. He has normal heart sounds in the precordium but there are coarse crepitations in the base of the left lung.

On examination of the abdomen, the liver is moderately enlarged at a level of 2cm below the costal margin but the spleen and kidneys were not palpable. There were no tenderness in the abdomen. Normal bowel sounds are heard.

Examination of the extremities show tenderness at the midshaft of the left leg. He has prominent genu valgum.

Investigations

Full blood count and morphology; WBC, total and differential, Hb; Chest Xray; chest MRI, chest CT scan.

DNA studies (Southern blot; FISH)

RBC- 2.2 x106/ml (4.6-6.2x106)

WBC- Total- 4,500/ cumm; Diff- N-71%, L 20%, M-5%,E-3% B-1%

Platelet- 300,000/cu.mm (290,000-140,000)

Hemoglobin 9 gm/dl (13.5-18.0)

Morphology - Sickle cells

ESR 75mm/hr (<15)

Serum Iron- 70 g/dl (50-150)

Iron binding capacity- 300 g/dl (250-450)

Serum Ferritin 100 g/dl (10-270 g/dl)

 

Electrolyte and Urea

Sodium 140 mmols/l (136-142), Potassium 3.9 mmols/l (3-8-5.0); Chloride 100 mmols/l (95-103); Blood urea nitrogen (BUN) 10 mg/dl (8-18);

Serum carbon dioxide content 40 mmols/l (24-30)

Bilurubin Total - 3 mg/dl (0.1-1.2)

Conjugated 0.27 mg/dl (up to 0.3mg/dl)

DNA studies- hybridization to HbS gene probe on Southern blot; positive fluorescein in situ hybridization (FISH) on tissue samples.

Chest Xray shows left lower lobar pneumonia confirmed by MRI and CT scan

 

Diagnosis: HbSS disease; Sickle cell anemia, Hb SS disease with bone pain crisis and acute chest syndrome.

 

 

Electronic School of Medicine
Creator: Oluwole Ogunranti