Day two understanding the role of blood clots in inheritable blood disorders
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Day Two: Understanding the Role of Blood Clots in Inheritable Blood Disorders. Plot The Clot. Inquiry Lab Review. What were your findings from our lab in the previous class? What do you think caused the “clots” to form in the blood/milk?

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Day two understanding the role of blood clots in inheritable blood disorders

Day Two: Understanding the Role of Blood Clots in Inheritable Blood Disorders

Plot The Clot

Inquiry lab review
Inquiry Inheritable Blood DisordersLab Review

  • What were your findings from our lab in the previous class?

  • What do you think caused the “clots” to form in the blood/milk?

  • What effect would the formation of these clots have on the human body?

  • What would happen if blood clots did not form in the human body?

Today s objectives
Today’s Objectives Inheritable Blood Disorders

  • To develop an understanding of how blood clots in the human body

  • To learn about specific blood disorders and their effect on an individual’s health

  • To learn how public health efforts are used to help people with inherited blood disorders

How do blood clots form
How do blood clots form? Inheritable Blood Disorders


  • Parallel reading from textbook

Back to some of our previous questions
Back to some of our previous questions Inheritable Blood Disorders

  • What effect would the formation of these clots have on the human body?

  • What would happen if blood clots did not form in the human body?

  • How would/could people live who had these kinds of conditions?

Two types of blood disorders
Two Types of Blood Disorders Inheritable Blood Disorders

  • Malignant - used to describe a severe and progressively worsening disease. This term is most familiar as a description of cancer

  • Non-Malignant - does not spread or "metastasize" to other parts of the body

Non malignant blood disorders
Non-Malignant Blood Disorders Inheritable Blood Disorders

  • Bleeding Disorders ( Hemophilia, von Willebrand)

  • Clotting Disorders – (Thrombosis, Thrombophilia)

  • Hemoglobinopathies – (Thalassemia, Sickle Cell disease)

  • Red Cell Disorders – (Diamond Blackfan Anemia)

  • Iron Disorders – ( Hemochromatosis)

Hemophilia Inheritable Blood Disorders

  • Inherited disease that prevents the blood from clotting properly.

  • Caused by a deficiency of a blood protein, also called a “clotting factor.”

  • 18 to 20 thousand people in U.S. – 400 babies born each year in U.S.

Hemophilia Inheritable Blood Disorders

  • X-linked recessive bleeding disorder

    • Males affected, females carriers

    • 1 out of every 5000 live male births

  • Decreased levels of

    • FVIII in hemophilia A (90%)

    • FIX in hemophilia B (10%)

  • Lack of factor results in a weak blood clot

Clinical classification
Clinical Classification Inheritable Blood Disorders

Venous thromboembolism vte
Venous Inheritable Blood DisordersThromboembolism (VTE)

  • Includes Deep Vein Thrombosis (DVT) and Pulmonary Embolism (PE)

  • Estimates range from 300,000 to 900,000 annually

  • 30 % of people with VTE die within one month of diagnosis

  • 25% of those with PE present with sudden death

Public health burden of vte
Public Health Burden of VTE Inheritable Blood Disorders

  • PE is the leading cause of maternal mortality in the U.S

  • PE is second leading cause of maternal mortality (behind post-partum hemorrhage) internationally

  • Fortunately, much of the morbidity and mortality may be preventable

Acquired risks
Acquired Risks Inheritable Blood Disorders

  • Obesity

  • Advanced age

  • Air travel

  • Chronic diseases

  • Hospitalization / surgery

  • Trauma / Injury

What is thalassemia
What is Inheritable Blood DisordersThalassemia?

  • Inherited disorder of hemoglobin synthesis that alters globin chain production

    • • Mild to severe anemia

    • • Alpha and Beta forms

Common forms
Common Forms Inheritable Blood Disorders

Common forms continued
Common Forms, continued Inheritable Blood Disorders

Who does thalassemia affect
Who Does Inheritable Blood DisordersThalassemia Affect?

  • Sex

    • Both sexes equally affected

  • Age

    • age at onset of symptoms varies significantly depending on severity of disease

  • Ancestry

    • Alpha thalassemias

      • Most common among Southeast Asian, Indian, Chinese, or Filipino.

    • Beta thalassemias

      • Most common among people of Mediterranean (Greek, Italian, and Middle Eastern), Asian, or African

Global and domestic burden
Global and Domestic Burden Inheritable Blood Disorders

  • Worldwide

    • Most common blood inherited blood disorder

    • In all race/ethnic groups

    • 15 million people with clinically significant thalassemic disorders

    • India: 30 million carriers

    • Cyprus – 1 in 7 carriers, 1 in 158 with beta Thalassemia

  • US

    • Exact prevalence unknown

    • Beta thalassemia major (Cooley’s anemia) : 1000 individuals

    • Increasing due to demographic changes and longer life expectancy

Treatment Inheritable Blood Disorders

  • Blood transfusions

    • Frequency depends on severity

    • Every 2-4 weeks for those with b thalassemia

    • major

  • Iron chelation therapies

  • Fetal hemoglobin inducers

  • Blood and marrow stem cell transplant

Background Inheritable Blood Disorders

  • Thalassemia patients are the largest consumers of red blood cells in the United States

  • Increased risk for exposure to transfusion transmissible infections

Sickle cell disease
Sickle Cell Disease Inheritable Blood Disorders

  • Inherited blood disorder that affects red blood cells.

  • Occurs when a defective hemoglobin gene is inherited from both parents

  • Can cause anemia and obstruct blood vessels, causing major complications.

Sickle cell disease1
Sickle Cell Disease Inheritable Blood Disorders

  • Most common inherited blood disorder in the U.S.

  • Estimated 100K Americans affected

  • Most of those affected with SCD are those whose ancestors come from Africa, an increasing number of Hispanics also have the disease

Sickle cell trait
Sickle Cell Trait Inheritable Blood Disorders

  • Occurs when a person carries only one copy of the defective hemoglobin gene.

  • Individuals have a 50% chance of passing the defective hemoglobin gene to each of their children

  • Estimated 2 million Americans that have the sickle cell trait in the U.S.

  • About 1 in 12 African Americans has sickle cell trait.

What is dba
What is DBA? Inheritable Blood Disorders

  • Diamond Blackfan Anemia:

    • Red blood cell anemia resulting from failure of bone marrow to produce sufficient red blood cells.

    • Diagnostic criteria: increase in a specific red cell enzyme called erythrocyte adenosine deaminase (eADA) and mutation analysis (genetic testing)

    • Named after the two doctors that discovered it in the 1930’s; Dr Diamond and Dr Blackfan

What is dba1
What is DBA? Inheritable Blood Disorders

  • Treatment

    • Corticosteroids and blood transfusions

    • Chelation therapy

  • Hope for a cure?

    • Stem cell transplantation (SCT), also known as bone marrow or cord blood transplantation is curative in DBA

    • SCT remains complex and controversial

Dba truly rare disease
DBA: Truly Rare Disease Inheritable Blood Disorders

  • Diamond Blackfan Anemia:

    • True prevalence unknown

    • Estimated 25 – 35 cases per year in US and Canada (7 in a million!)

    • Suspect 500 – 1000 patients in the US

    • Occurs equally in males and females and among all ethnic groups

    • Usually diagnosed before age 2

Genetic discovery
Genetic Discovery Inheritable Blood Disorders

  • DBA is usually a dominant or sporadic mutation

  • DBA is the first human disease due to mutations in a ribosomal structural protein

  • At least six different genetic mutations to DBA have been discovered

    • Most common: RPS 19 (About 25%)

    • Others: RPS 24, RPS 17, RPL 5, RPL 11, and RPL 35a

  • A genetic mutation has not yet been found for half of all patients with DBA.

Birth defects and dba
Birth Defects and DBA Inheritable Blood Disorders

  • Congenital Anomalies (Birth Defects) 47% of the patients in the DBAR have physical abnormalities (not including short stature).

  • Common locations:

    • 50% face and head (including cleft lip and palate), neck and shoulders

    • 20% hands (triphylangeal thumb)

    • 20% urogenital tract

    • 15% heart

    • Over 20% of patients have more than one abnormality.

Cancer and dba
Cancer and DBA Inheritable Blood Disorders

  • Studies are ongoing by NCI to determine the extent of DBA and the development of cancers:

    • Leukemia (cancer of the blood and bone marrow)

    • Sarcomas (cancer arising in bone, fat, cartilage, tendons or connective tissue)

Hemochromatosis hhc
Hemochromatosis Inheritable Blood Disorders(HHC)

  • Is an inherited condition of abnormal iron metabolism (iron overload)

  • Iron cannot be excreted therefore the metal can reach toxic levels in tissues of major organs such as the liver, heart, pituitary, thyroid, pancreas, and synovium (joints).

Hemochromatosis Inheritable Blood Disorders

  • Hard to detect

  • Estimated 37 million "silent carriers" in U.S.

  • Another 2 to 3 million Americans who are at high risk for having HHC.

Acknowledgements: Inheritable Blood Disorders

  • Presentation adapted from

  • Christopher S. Parker, Ph.D., MPH

  • Division of Blood Disorders (DBD)

  • National Center on Birth Defects and Developmental Disabilities (NCBDDD)

  • Centers for Disease Control and Prevention (CDC)

  • Web Video

  • Dr. Usha M Reddy, MD

  • Reddy Medical Communications, LLC