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 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?

  • 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

  • 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?


  • Parallel reading from textbook

Back to some of our previous questions

Back to some of our previous questions

  • 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

  • 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

  • Bleeding Disorders ( Hemophilia, von Willebrand)

  • Clotting Disorders – (Thrombosis, Thrombophilia)

  • Hemoglobinopathies – (Thalassemia, Sickle Cell disease)

  • Red Cell Disorders – (Diamond Blackfan Anemia)

  • Iron Disorders – ( Hemochromatosis)



  • 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.



  • 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

Venous thromboembolism vte

Venous Thromboembolism (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

  • 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

  • Obesity

  • Advanced age

  • Air travel

  • Chronic diseases

  • Hospitalization / surgery

  • Trauma / Injury

What is thalassemia

What is Thalassemia?

  • Inherited disorder of hemoglobin synthesis that alters globin chain production

    • • Mild to severe anemia

    • • Alpha and Beta forms

Common forms

Common Forms

Common forms continued

Common Forms, continued

Who does thalassemia affect

Who Does Thalassemia 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

  • 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



  • 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



  • 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

  • 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

  • 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

  • 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?

  • 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?

  • 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

  • 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

  • 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

  • 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

  • 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


  • 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).



  • 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.



  • 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

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