DISEASES &
ETIOLOGY
ETIOLOGY
What are the Etiologies of Methylmalonic acidemia?
B12 deficiency, genetic mutations affecting cobalamin metabolism
This imaging method is used to detect splenomegaly in children with hereditary spherocytosis or hemolytic anemia.
Ultrasound
This test evaluates overall blood health and detects conditions like anemia and infections.
CBC
A 5-year-old child is seen with weakness, pallor, and shortness of breath. Laboratory results show low hemoglobin and low ferritin levels. What is the first-line treatment?
Iron supplementation
Bilirubin builds up in the blood, leads to...
Jaundice
find the disease...
Etiology: Point mutation in HBB gene (glutamic acid to valine)
Sickle cell disease
This method is used in children with suspected brain hemorrhage or intracranial pressure changes.
CT scan
This test detects antibodies on red blood cells and helps diagnose autoimmune hemolytic anemia.
COOMBS TEST
The most appropriate diagnostic tool to assess RBC morphology is:
blood smear test
Bilirubin is a waste product from the breakdown of_________?
RED BLOOD CELLS
what is the etiology of Thalassemia?
Mutations in alpha or beta-globin genes
A child with chronic anemia and pallor is suspected of having thalassemia. What imaging method is commonly used to detect skeletal abnormalities or bone marrow expansion in such cases?
x-ray
Elevated levels of this compound in the blood can indicate liver dysfunction or hemolysis.
Bilirubin
Ankyrin & Spectrin are;
RBC membrane proteins
The destruction of red blood cells is called_________?
Hemolysis
This rare pediatric condition involves failure of the bone marrow to produce sufficient blood cells, leading to pancytopenia.
Aplastic anemia
This instrumental method should be avoided in children with pacemakers or other implanted devices.
MRI
What is Aspiration?
This procedure involves taking a sample of bone marrow for analysis.
What are the most common etiologies of Iron-deficiency anemia ?
Insufficient iron intake, chronic blood loss (e.g., gastrointestinal or from overconsumption of milk)
A genetic disorder that results in abnormal red blood cells that are more prone to breaking apart (hemolysis).
Hereditary Spherocytosis
Rh or ABO incompatibility leads to?
Hemolytic disease of the newborn (HDN)
it should not be used in the presence of severe abdominal obesity or uncooperative patients.
Doppler ultrasound
What is the main contraindications of performing bone marrow biopsy?
coagulopathy, Risk of bleeding
Why Macrocytic anemia is more common in strict vegetarians?
Vitamin B12 deficiency [Vitamin B12 is only found in animal products, so strict vegetarians who exclude all animal foods from their diet are at higher risk of deficiency]
Name any three Clinical Presentation of Icteric Syndromes in Children?
Jaundice: Yellowing of the skin, sclera and mucous membranes
Dark Urine: The presence of excess conjugated bilirubin in the urine can give it a dark or tea-colored appearance.
Pale Stools: Lack of bile flow can result in light-colored or clay-colored stools.
Enlarged Liver or Spleen (Hepatosplenomegaly)