A case presentation Faculty of medicine Pediatric Round

A case presentation Faculty of medicine Pediatric Round Department of pediatrics Dr / Safaa Ahmed Mostafa

History Name : Mohamed Ahmed Mohamed v Age : 5 years v Sex : male v Informant : his mother v Resident : qena v Complaint : pallor and yellowish discoloration of sclera of 2 days duration v

History of present illness mohamed was completely alright at 6 months of age, after which it was noticed that he had pallor and difficulty in breathing. • He was taken to various doctors who gave multiple drugs but the condition remained the same, so he was brought to QUH, where he underwent a blood CBC which showed severe anemia. Then electrophoresis was done and showed the following…*

Hb electrophoresis report o peripheral film : • Dimorphic picture • Anisocytosis, hypochromic, microcytic, p oikilocytosis • Tear drop cells • Fragmented cells o hemoglobin • Hb A 2 -------3. 9% (1. 3. 3. 5) • Hb F --------96. 1% Interpretation A 2 + F [High F consistent with thalassemia major]

At 8 months of age, he was given a blood transfusion and was sent home. • Pre transfusion Hb : 3. 3 g/dl • Post transfusion Hb: 9. 5 g/dl o After this he received bl transfusion monthly till this age o From 2 days duration he developed pallor followed by yellowish discoloration of sclera , acute onset and progressive course The patient saught medical advice at ER of QUH & investigations done then admitted to receive blood transfusion No hx of fever or red urine No hx of bleeding tendency No hx of other system affection o

Past history : � +ve hx of similar condition and recurrent blood transfusion monthly Ø No surgical history, accidents or injury. Drug history : • Folic acud natal history: • • • full term, cesarean section at private clinic d. t previous C. S Baby cried at birth. Baby weight: 3 kg Postnatal history: hx of NICU admission for 3 days at age of 1 day d. t R. D No h/o jaundice , cyanosis , seizures

Family history: • +ve h/o consanguineous marriage • No h/o similar illness in family • No h/o TB, DM, Kidney deases • No h/o HTN Immuniztion hx : � Immunization as schedule with strictly all vaccines given to child Developmental History: � Normally physical & mental Feeding hx : � Weaning food � He was on breast feeding in 1 st 2 years of life

Examination v. General � � � ex : Pallor & jaundice No cyanosis Thalassemic facies ( frontal & parietal possing , prominent maxilla & exposure of upper central teeth ) v. Vital sings : � Pulse 120 b/min regular, normal vol & characters � B. P 90/60 mmhg on RT arm in sitting � R. R 20 c/min � Temp 37 c v. Anthropometric measurement � � Wt 16 kg Height 90 cm Hc 44 cm A. F closed :

v GIT ex : Inspection distended abdomen , no venous prominence, no scar marks, hernia site are intact � Palpation palpable RT lobe of liver about 7 cm in MCL below costal margin , palpable spleen about 5 cm in MCL below costal margin & no palpable notch no local rise in temp or tenderness � Percussion no shifting dullness � v Chest ex: Bilateral Equal Chest Expansion ; B/L Normal vesicular breath sounds ; no added sounds, Trachea Central v. CVS ex : S 1 S 2, Normal, No added sounds. Ø PROVISIONAL DIAGNOSIS : � A case of hemolytic anemia most probably thalassemia major

Investigations CBC Result Reference Hb 6 9. 6 – 15. 6 g / dl RBC 2. 1 3. 4 – 5. 2 (10^6/ML) MCV 50 76 – 92 fl MCH 16 26 – 31 pg RDW 24 10. 5 – 15. 0 % RETIC 7 . 82 – 1. 45 % HCT 18 34 – 48 % PLT 313 150 – 450 (10^3/ML) WBC 9 5. 5 – 17. 5 (10^3/ML)

HB electrophoresis Result reference Hb A 1 0. 0 % 96. 0 – 99. 0 Hb A 2 4% 1. 5 – 3. 5 Hb F 94% After 1 yr < 1. 5 %

Blood chemistry Result Reference Total serum bilirubin 7 0. 8 – 1. 2 mg/dl Direct bilirubin 1. 5 Indirect bilirubin 5. 5 Serum iron 300 30 – 180 μg/dl Total Iron binding capacity 80 250 -350 μg/dl Serum ferritin 2000 24 – 285 μg/dl

Final Diagnosis � With the clinical sign and symptoms , lab diagnosis, age as well as other no secondary diseases associated. � Thalassemia major

Thalassemia syndromes Thalassemia is a group of inherited disorders of hemoglobin synthesis characterized by a reduced or absent one or more of the globin chains of adult hemoglobin.

types beta alpha Silent carrier trait Hemoglobin H disease Hydrops fetalis minor major intermedia

Beta thalassemia minor : D. D iron deficiency anaemia ( decreased iron – increased iron binding capacity) Hb electrophoresis increase in Hb. A 2 (3, 4 – 7%) and Hb. F (2 – 6%) Serum iron normal/slightly elevated No clinical abnormalities Hb mild decrease RBC hypochromic microcytic

Beta thalassemia major ( Cooley's anemia) : Clinical pictures onset in 2 nd half of 1 st year pallor , jaundice , hemosiderosis thalassemic facies hepatosplenomegaly growth retardation delayed puberty

Pathophysiology

Complications • Hemosiderosis • Gallstones • Anaemic H. F • Complictions of BL transfusion ( hepatitis & AIDS) • Hypersplenism • Aplastic crisis

- CAUSES OF DEATH Congestive heart failure Arrhythmia Sepsis Multiorgan failure

Investigations General laboratory data of chronic hemolytic anaemia CBC with Retics Hb electrophoresis

Treatment : • Blood transfusion • Iron chelating therapy • Folic acid • Splenectomy • Bone marrow transplantation

• Prospective genetic counseling Prevention • Prenatal : diagnosis

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