Categorías: Todo - symptoms - mutations - inheritance - evolution

por Ivy Nguyen hace 3 años

259

Von Willebrand Disease (VWD) - Blood disorder where blood does not clot properly

Von Willebrand Disease (VWD) is a genetic blood disorder characterized by improper clotting due to insufficient or dysfunctional Von Willebrand Factor (VWF). It affects both males and females equally and can be inherited from either parent.

Von Willebrand Disease (VWD)
- Blood disorder where blood does not clot properly

Floating topic

Von Willebrand Disease (VWD) - Blood disorder where blood does not clot properly

Symptoms

Bruises
Excessive bleeding (Nose, gums, menstral)

Lack of Von Willebrand Factor

Glycoprotein
Platelet adhesion

Types

Autosomal Recessive
Type 3

Rarest, most severe

Autosomal Dominant
Type 1

Mildest, most common

Mutations

Harmful Mutation
Mutation on chromosome 12

Pseudogene duplicated on chromosome 22

Lack of Von Williebrand Factor (VWF)

Inability to make proper blood clots

Inheritance

Equal Chance of Male/Female carrying VWD
Receiving VWD Allele from parent

Directional Selection

Type O blood with lower levels of VWF

Types A, B, AB blood have higher levels of the VWF

How has Von Willebrand Disease relate to evolution?

Learning to increase VWF
Treatments

Antifibrinolytics

Drugs that blood clots to breakdown

VWF infusions

Receive regular VWF infusions

Desmopressin (1977)

Hormonal injection that stimulates body to create more VWF in blood vessels

Selective Breeding
Symbiosis between humans and dogs

Breeding Dogs

Spontaneous hemorrhages

Shetland Sheepdogs

Scottish Terriers

Doberman Pinscher

Propagation
Identified by Erik Adolf Von Willebrand in 1924

In 1960s, combined with factor FVIII and plasma responsible for platelet adhesion

In 1970s, found Ristocetin to induce platelet aggregation