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Presentation no 1
Submitted To: Mam Bakhtawar Fatima
Submitted By: Sehar Saeed
Wajeeha
Semester: 8th Morning
Topic:Thrombotic thrombocytopenic purpura (TTP)
Thrombotic thrombocytopenic purpura (TTP) - a rare and serious blood disorder.
Definition:
TTP is a blood disorder characterized by:
• Thrombocytopenia: Low platelet count
• Microangiopathic hemolytic anemia: Red blood cells are destroyed as they pass through
small blood vessels
• Thrombosis: Blood clots form in small blood vessels.
Pathogenesis:
ADAMTS13 deficiency:
The primary cause of TTP is a deficiency in the ADAMTS13 enzyme, which normally cleaves
large VWF multimers into smaller, less platelet-adhesive fragments.
Uncontrolled VWF aggregation:
Without functional ADAMTS13, large VWF multimers accumulate in the bloodstream and
readily bind to platelets, forming platelet aggregates that can obstruct small blood vessels.
Microthrombi formation:
These platelet-VWF aggregates form microthrombi in arterioles and capillaries, particularly
affecting organs like the brain, kidneys, and gastrointestinal tract.
Microangiopathic hemolytic anemia (MAHA):
As red blood cells try to pass through these microthrombi, they get fragmented, leading to the
characteristic "schistocytes" seen on blood smear and causing hemolytic anemia.
Platelet consumption:
The microthrombi also consumes platelets, contributing to the thrombocytopenia observed in
TTP.
Causes
Genetic mutations: Defects in the ADAMTS13 gene
Autoimmune disorders: Conditions like lupus or rheumatoid arthritis
Infections: Certain bacterial or viral infections
Medications: Certain drugs, such as ticlopidine or clopidogrel Pregnancy:
Rarely, TTP can occur during pregnancy
Symptoms
General Symptoms: Fatigue, weakness, Fever
Purpura: Purple spots on the skin
Petechiae: Small red spots on the skin
Neurological symptoms: Confusion, Headache, Speech abnormality
{seizuers,Coma(Rarely)}
Kidney Related: Hematuria, Proteinuria, Oligouria and electrolyte Imbalance
GIT related: Abdominal Pain, Nausea, Vomiting and Diarrhea
Diagnosis
• Blood tests: Complete blood count (CBC), blood smear, and tests for ADAMTS13
activity
• Imaging studies: CT scans or MRI to rule out other conditions
Treatment
1. Plasma exchange: Removing and replacing plasma to restore ADAMTS13 activity
2. Corticosteroids: Medications to reduce inflammation
3. Immunosuppressive therapy: Medications to suppress the immune system
4. Blood transfusions: Transfusing platelets or red blood cells as needed
5. Supportive care: Managing symptoms and preventing complication
Chronic Leukemia
• Defination
• Causes
• Types
• Sing and Symptoms
• Diagnosis
• Treatment
Submitted By: Shahzaib Zulfqar
Zulqarnain Asghar
Chronic Leukemia:
It is also known as the Adult leukemia.
The leukemia in which abnormal mature cells are not performing
their work normaly and getting more wrose slowly and gradually
then acute state is called Chronic leukemia.
There is abnormal WBC's in the blood which are not performing
their function but also supresing the normal function of the normal
cells also.
Cuses:
No exact cause is find .
Some theory or investigation of the leukemia patient shows that there is
chromosomal or gene mutation which causes the leukemia.
Risk Fcators:
• Smoking
• Workers of chemical industry(Benzene and formaldehyde)
• Other cancer treatment therapies
• Genetics ( Family history and Down Syndrome or Klineflter )
• Radiation
Types:
1-CLL:
Chronic lymphocytic leukemia involves bone marrow cells that create lymphocytes type
of WBC's.
It generally develop when B lymphocytes mutate or multiply uncontrolled.
Patho Physiology:
When there is abnormal or more WBC's because of defect the bone marrow supress the
production of RBC's and platelets a moment came when there not enough rbc's or to carry
oxygen and platelets to causes blood cloting and not enough Wbc's to carry normal function of
immunity the immunity become weak and swelling of lymphnodes occur with severe sings and
symptoms.
Causes of CLL:
• Genetic History:
• Chromosomal Abnormality in Chromosome no 9 and 22.
• Mutation in gene
NOTCH1(neurogenic locus notch homologos
protien1) and SF3B1 (splicing factor 3b subunit)
2-CML:
• Chronic myelogenous leukemia (CML), also known as chronic
myeloid leukemia, is a cancer of the white blood cells. It is a form
of leukemia characterized by the increased and unregulated
growth of myeloid cells in the bone marrow and the accumulation
of these cells in the blood. CML is a clonal bone marrow stem
cell disorder in which a proliferation of
mature granulocytes (neutrophils, eosinophils and basophils) and
their precursors is found; characteristic increase in basophils is
clinically relevant. It is a type of myeloproliferative
neoplasm associated with a characteristic chromosomal
translocation called the Philadelphia chromosome.
Patho Physiology:
Primarily driven by a genetic abnormality known as the PHILADELPHIA
chromosome which occur when a piece of chromosome 9 translocate to
22, creating a fusion gene called BCR-ABL1 resulting in the production of
an abnormal active tyrosine kniase protien that lead to uncontrolled
proliferation of myeloid cells in the bonne marrow causing excessive
production of WBC's.
There are three stages
1- Chronic stage 85% clinical presentation (hematopoietic stem cells
division)
2- Accelerated stage : 10-19% presentation immature precursor cells
divided and accumulated in bone marrow
3- Blastic stage : less than 20% mature abnormal cells
Sing and symptoms :
• Weakness & fatigue
• Unusual bruising
• Bleeding easily
• Skin changes (petechiae red spots , blue or darker then skin tone)
• Fever
• Pain
• Headache
• Swollen lymph nodes & severe infection
• Pain in bones
• Weight loss
• Night sweats
Diagnosis:
• Physical examination:
Bleeding gums,bruises,pale skin,swelling in lymphnodes.
• CBC
• NGS( next generation sequencing)
• Bone marrow biopsy
• CT scan
• MRI X-Ray
Treatment :
• Chemo therapy
• Radio therapy
• Tyrosine kianase inhibitor
Floate Deficiency Anemia
Submitted To: Mam Bakhtawar
Submitted By: Alishba(547129),
Malaika(547148)
What is folate deficiency anemia
Folate deficiency anemia is a type of anemia that occur when the
body does not have enough folate
Also known as vitamin B9
Folate is essential for
1. producing red blood cells
2. Maintaining healthy nerve cells
3. Supporting DNA synthesis
Pathophysiology
Folate is essential for DNA synthesis because it act as a key
component in the production of thiamine
Folate provide crucial methyl group
Needed to convert uracil into thiamine ,a necessary step in DNA
synthesis
This process of converting is a part of de novo synthesis of
nucleotides, which are the building blocks of DNA synthesis
Because folate is essential for DNA replication, its deficiency
can significantly impact cell division and growth
Causes
You don not eat enough foods that have folic acids
Alcohol use that interfere with its absorption
Celiac disease (cause anemia because it damage the part of small
intestine which absorb folate
Increased demand like in Pregnancy (more folate required for
fetus )
Chronic diseases (kidney disease ,liver disease ,cancer)
Sign and symptoms
Fatigue
Weakness
Pale skin
Shortness of breath
Headache
Dizziness
Late stage include
Anemia
Mouth ulcers, diarrhea , weight loss , splenomegaly ,tachycardia ,
neurological signs and memory loss
Diagnosis
Dietary history
Complete blood count
Peripheral blood smear
Serum folate level check
Hemocystein level check
Bone marrow aspiration
Gastrointestinal endoscopy
Treatment
In herbal give decoction of
Rose petals and fenugreek seeds(meethi dana)
Give folate rich foods like
Cereals ,legumes , green leafy vegetables ,meat ,citrus fruits
In pregnancy check serum folate level and increase dietary intake
of folate
Complications
Heart failure
Arrythmias
Cardiac enlargement
Neural tube defect
Memory loss
Mood changes
Premature birth
Low weight birth
PRESENTATION NO .1
Submitted To: Mam Bakhtawar Farooq
Submitted By: Laiba Amin
Sana
Semester: 8th Morning
TOPIC:Iron deficiency anemia
Defination:
A condition in which blood lacks adequate healthy red blood cells. Red blood cells carry oxygen
to the body's tissues.
As the name implies, iron deficiency anemia is due to insufficient iron. Without enough iron,
body can't produce enough of a substance in red blood cells that enables them to carry oxygen
(hemoglobin). As a result, iron deficiency anemia occurs.
Pathophysiology:
The two different iron absorption pathways. Non-haem absorption pathway : insoluble ferric
iron (Fe3+) is reduced to absorbable ferrous iron (Fe2+), which is carried out by the enzyme
duodenal cytochrome B (DcytB). The divalent metal transporter 1 (DMT1) imports
Fe2+ across the apical surface and into the cell, which can then be either stored as ferritin or
exported into circulation through ferroportin. Prior to exiting the enterocyte, Fe2+ must be
oxidised back to Fe3+ by hephaestin or ceruloplasmin. Haem absorption pathway: the haem
carrier protein (HCP1) transports haem iron directly into the enterocyte. Once inside the
enterocyte, haem iron can either be released into plasma via the haem exporter FLVCR1 or be
converted back into Fe2+ via the haem oxidase (HO) enzyme. The ferroportin receptor then
releases Fe2+ into the plasma. Hepcidin, a hepatic peptide hormone, controls ferroportin, the
sole iron exporter, by promoting its endocytosis. Hepcidin production and circulation are
regulated by plasma iron concentration and iron stores. Hepcidin is increased in the presence
of inflammation, which then promotes the degradation of ferroportin and subsequently impairs
the exportation of cellular iron into plasma.
Causes:
Blood loss: Blood contains iron within red blood cells.
o Women with heavy periods are at risk of iron deficiency anemia because they lose blood
during menstruation. Slow, chronic blood loss within the body such as from a peptic
ulcer, a hiatal hernia, a colon polyp or colorectal cancer can cause iron deficiency
anemia.
A lack of iron in your diet. Our body regularly gets iron from the foods we eat. If consume too
little iron, over time body can become iron deficient.
An inability to absorb iron. Iron from food is absorbed into bloodstream in small intestine. An
intestinal disorder, such as celiac disease, which affects intestine's ability to absorb nutrients
from digested food, can lead to iron deficiency anemia.
Pregnancy. Without iron supplementation, iron deficiency anemia occurs in many pregnant
women because their iron stores need to serve their own increased blood volume as well as be a
source of hemoglobin for the growing fetus.
Symptoms:
Extreme fatigue
Weakness
Pale skin
Chest pain, fast heartbeat or shortness of breath
Headache, dizziness or lightheadedness
Cold hands and feet
Inflammation or soreness of your tongue
Brittle nails
Unusual cravings for non-nutritive substances, such as ice, dirt or starch
Poor appetite, especially in infants and children with iron deficiency anemia
Risk factors:
These groups of people may have an increased risk of iron deficiency anemia:
Women. Because women lose blood during menstruation, women in general are at greater risk of iron
deficiency anemia.
Infants and children. Infants, especially those who were low birth weight or born prematurely, who
don't get enough iron from breast milk or formula may be at risk of iron deficiency.
Vegetarians. People who don't eat meat may have a greater risk of iron deficiency anemia if they don't
eat other iron-rich foods.
Frequent blood donors. People who routinely donate blood may have an increased risk of iron
deficiency anemia.
Diagnosis:
Red blood cell size and color. With iron deficiency anemia, red blood cells are smaller and paler in color
than normal.
Hematocrit. This is the percentage of blood volume made up by red blood cells.
Hemoglobin: Lower than normal hemoglobin levels indicate anemia
Ferritin. This protein helps store iron in your body, and a low level of ferritin usually indicates a low
level of stored iron.
Additional diagnostic tests
Endoscopy. Doctors often check for bleeding from a hiatal hernia, an ulcer or the stomach with the aid of
endoscopy.
Colonoscopy. To rule out lower intestinal sources of bleeding.
Ultrasound. Women may also have a pelvic ultrasound to look for the cause of excess menstrual
Treatment:
Iron supplements
Iron rich foods such as fruits, vegetables
Choose foods containing vitamin C to enhance iron absorption
Medications, such as oral contraceptives to lighten heavy menstrual flow
Antibiotics and other medications to treat peptic ulcers
Surgery to remove a bleeding polyp, a tumor or a fibroids