Blood Disorders Flashcards
(19 cards)
What is thalassemia?
An inherited blood bisorder causing less hemoglobin levels than normal
What is the pathophysiology of thalassemia?
Globin genes are absent or mutated.
Reduction of one type of globin gene causes excess of the other type.
Accumulation of unpaired globin chains disrupts normal cell function and causes instability.
Instability means red blood cell precursors cannot not mature into erythrocytes and hence destroyed by macrophages.
The body compensates by producing more erythrocytes but they lack haemoglobin; called hemochromic red cells
What is the anatomy of haemoglobin?
One haemoglobin molecule consists of 4 globin chains - 2 alpha chains and 2 beta chains
What is the most abundant haemoglobin in adults?
HbA/ Haemoglobin A
Signs and symptoms of thalassemia
Fatigue
Slowed growth / delayed puberty
Bone problems
Enlarged spleen, heart, and liver
Pale
Poor appetite
Dark urine
What are 5 investigations for thalassemia?
FBC
LFT
iron studies
Blood film
HPLC / haemoglobin electrophoresis
What are some complications of thalassemia?
Infection
Osteoporosis
Transfusion reactions
Alloimmunisation - pt develops antibodies against red cell antigens
Endocrine complications - due to iron overload
Cardiovascular complications - iron overload increases risk of arrhythmia
Thrombosis
Skin bronzing from iron overload
Gout
Leg ulcers
Gallstones
What is haemoglobin electrophoresis?
A blood test that separates different types of haemoglobin based on their electrical charge allowing for the detection of abnormal haemoglobin forms
What is a blood film?
Aka peripheral blood smear
A diagnostic tool where a thin layer of blood is spread on a glass slide, stained and examined under a microscope to access blood morphology and count
What is leukemia and its cause?
A type of cancer found in your blood and bone marrow and is caused by the rapid production of abnormal blood cells
What is acute myeloid leukemia (AML)?
A type of blood cancer that occurs when the bone marrow has uncontrolled growth of the myeloid cell line.
Abnormal stem cells fail to mature and get stuck in myoblast stage
What are some symptoms of AML?
Unexplained fevers
SOB
weakness
Fatigue
Feelining cold
Dizziness
Weight loss
Appetite loss
Bruising easily
Pale skin
Petechiae
What are symptoms of disrupted haematopoeisis?
Anaemia - fatigue, weakness, pallor, malaise, palpitations, dyspnoea, tachycardia and chest pain
Thrombocytopenia - mucosal bleeding, easy bruising, epistaxis, gum bleeding
Neutropenia - increase susceptibility to infections
Leukemia infiltration - abdo discomfort
What is the function of P53?
This protein acts as a tumor suppressor as it regulates cell division by keeping cells from growing or proliferating too fast or uncontrolled
How does P53 work?
Slides along the DNA until it finds a critical site that needs repairing
It will bind to the site and send and a message to hold cell division until it is repaired
If unrepairable, a message will be sent to kill by cytotoxic T cells
What is pancytopenia?
A condition where erythrocytes, thrombocytes and leukocytes all have significantly reduced amounts in the blood.
Anaemia, thrombocytopenia and leukopenia all in one.
What is anemia?
A blood disorder that occurs when the body does not have enough healthy erythrocytes, hence not enough haemoglobin to transport oxygen
What is thrombocytopenia?
A condition where the body does not have enough thrombocytes to facilitate clotting
What is neutropenia?
A condition where the body does not have enough neutrophils to fight infection
Aka leukopenia
