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Julie Chen

on 24 November 2015

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Transcript of THALASSEMIA

What is it?
Different names
life quality and outlook
Treatments and Accommodations
general treatments:
-blood transfusions (as well as chelation therapy) every 2-4 weeks depending on one's consumption of unfused cells
-bone marrow transplant
-medications (ex. exjade, desferal)and supplements (ex. folic acid)
-possible surgery to remove spleen and/or gallbladder
-stem cell transplant
Identifying the disease
Definition: Thalassemia is a blood disorder
that is inherited through a defect in a gene
that aids in the production of alpha globin
or beta globin proteins, found in Hemoglobin.

Both alpha and beta thalassemia
contain thalassemia minor and thalassmia major.

• less hemoglobin and fewer red blood cells than normal
• abnormal form of hemoglobin
• lower and fewer hemoglobin may cause anemia therefore fatigue.
= protein in red blood cells carrying oxygen for all cellular activities

Constant Spring
Cooley’s Anemia
Hemoglobin Bart hydrops fetalis
Alpha thalassemia occurs most often in people from Southeast Asia, the Middle East, China, and North Africa

Beta thalassemia occurs in people of a Mediterranean origin. However it can also affect Chinese, other Asians and African Americans, but to a lesser extent.
Alpha thalassemia : • Genes coinciding
with alpha globin protein are missing or mutated
• It is an autosomal recessive condition
(2 serious types);
*Hemoglobin H disease:
overgrowth of cheeks, forehead, jaw causing bone disformities
extremely enlarged spleen
slow growth delayed puberty
dark urine (ulcers)
*Hydrops fetalis:
death shortly after birth due to several destryed RBC's

depend on type of thalassemia
Beta thalassemia (2 types);
frequent infections
poor appetite
failure to thrive
enlarged organs
extramedullary hematopoiesis
cortical bone thinning
*intermedia: anemia
Thalassemia minor: no symptoms
*may have side effects of anemia

Alpha Hemoglobin (4 genes needed in body)
-1 gene = silent carrier, no signs of illness
-2 genes = alpha thalassemia trait (aka alpha thalassemia minor), mild anemia
-3 genes = Hemoglobin disease, moderate-severe anemia
-4 genes = alpha thalassemia major or hydrops fetalis, shortly dies after birth

Beta Hemoglobin (need 2 genes)
-1 gene = carrier
-2 genes = beta thalassemia intermedia -> moderate anemia or beta thalassemia major -> severe anemia

-recessive gene inherited condition
-alpha thalassemia caused by either a genetic mutation or a deletion of certain key genes. At least one alpha globin gene has a mutation or abnormality

-beta thalassemia occurs when the beta globin genes are the genes infected
Two copies of the hemoglobin alpha gene (HBA1 & HBA2) each encode for an alpha chain on chromosome -16
[Chromosome 11 and 16 image] retrieved from http://thalassemia.com/images/genetics-chromosome.gif
[a hemoglobin gene ] http://www.nhlbi.nih.gov/sites/www.nhlbi.nih.gov/files/images_302
[b hemoglobin gene] http://www.nhlbi.nih.gov/sites/www.nhlbi.nih.gov/files/images_303
Identification and Treatment
-blood tests that will test for anemia and abnormal hemoglobin
-physical examination (depending on severity ex. a severely enlarged spleen)
- We can perform hemoglobin electrophoresis blood tests to confirm if an individual shows signs of the disorder. The diagnosis is clinically based on sustaining a satisfactory hemoglobin (Hb) level at least 6-7g/dL without regular blood transfusions.

Severe thalassemia can cause early death (between ages 20-30) from heart failure.

Untreated thalassemia major can lead to:
heart failure
liver problems
higher risk to develop infections

Less severe forms do not shorten life expectancy.
Seldom for the individual to lead a normal life
chelation therapy
= receiving an injection of a chemical to help remove extra iron from the body
- avoid excess iron (supplements)
- maintain a healthy diet
-avoid infections
-making sure that blood transfusion site is as clean as possible to prevent infection
[Normal red blood cells versus thalassemia blood cells] Retrieved from http://www.zliving.com/wp-content/uploads/2014/12/Thalassemia1-760x384.jpg
[Child with thalassemia symptoms] Retrieved from http://usercontent1.hubimg.com/9220304_f260.jpg
[blood test] Retrieved from http://i.huffpost.com/gen/1402083/images/o-BLOOD-TEST-facebook.jpg

Genetics of Thalassemia. (n.d.). Retrieved November 24, 2015, from http://thalassemia.com/genetics-inheritance.aspx#gsc.tab=0

Living with Thalassemia « Thalassemia. (n.d.). Retrieved November 24, 2015, from http://www.thalassemia.ca/advocacy-support/living-with-thalassemia/

Thalassemia. (n.d.). Retrieved November 24, 2015, from http://www.mayoclinic.org/diseases-conditions/thalassemia/basics/lifestyle-home-remedies/con-20030316

Thalassemia. (n.d.). Retrieved November 24, 2015, from http://www.healthline.com/health/thalassemia#Overview1

Thalassemia: MedlinePlus Medical Encyclopedia. (n.d.). Retrieved November 24, 2015, from https://www.nlm.nih.gov/medlineplus/ency/article/000587.htm

What Are Thalassemias? (n.d.). Retrieved November 24, 2015, from http://www.nhlbi.nih.gov/health/health-topics/topics/thalassemia

Your help can transform the lives of thallasemia Childern... (n.d.). Retrieved November 24, 2015, from http://www.thalassemiacare.com/

My Story. (2015, February 17). Retrieved November 24, 2015, from http://www.cdc.gov/NCBDDD/thalassemia/stories.html


Thalassemia major
: development of severe anemia early in life and cannot produce adult hemoglobin

Thalassemia minor
: people who have a mutation only in one gene (carriers); little to no anemia. Rarely show symptoms.

Two forms of the disorder
The type of thalassemia that a person has inherited depends solely on his or her parent’s genes. Though you may not appear to have any symptoms now, it could appear later on. Likewise, the trait can also be passed on to future generations, increasing risks for inheriting the disorder.
Pedigree examples: Let’s test your knowledge !

Two scenarios:
1. Sarah and Den both have thalassemia major (hint: beta thalassemia trait), what is the possibility of their future children inheriting this disorder? Be sure to test for all possibilities.
Let “r” represent affected allele for thalassemia
Let “R” represent the unaffected allele

Both parents have homozygous recessive: All of the children will have Thalassemia due to strong genes.
Both parents are carriers (heterozygous): 25% unaffected, 50% are carriers, 25% affected

2. If the father is normal (unaffected) while the mother is a carrier (hint: One is homozygous and the other is heterozygous for Thalassemia), what are the odds that the child will develop a severe form of thalassemia?

Alleles: RR,RR,Rr,Rr
In this case, one parent is a carrier for alpha thalassemia while the other is normal. Often, the term “silent carrier” is used to describe the parent. Therefore, there is a 50% chance that the child will be normal and a 50% chance that the child will be a carrier.

Therefore, the odds are slim in developing a severe form of the disorder.

Hemoglobin beta gene (HBB) is located on chromosome-11
Did you know…?
In the United States, there are approximately 1,000 cases for thalassemia major, with the majority being immigrants
The most severe forms of thalassemia exist in countries where malaria is endemic

New Research and Future treatment options:

Can we find a cure?

Mouse models for the three types of thalassemia are proving to be useful in examining the potentials of gene therapy technology.

Such medical advances show promise in increasing the life expectancy and lifestyle for those living with thalassemia around the world.

"My name is Rahul Kapoor, and I was born with thalassemia, a blood disorder which requires transfusions every other week to keep me healthy and alive. When I get transfused, the whole process takes seven or eight hours, which means I have to do a lot of "working around" to fit it in my schedule. Also, on transfusion days, I am given several pre-meds which cause me to become very drowsy and keep me from eating properly or functioning for basically an entire day. There are a lot of complications associated with thalassemia, especially transfusion-related iron overload which requires a daily drug treatment, and sometimes it can be scary knowing that excess iron will damage my heart and liver if I can't get it out. But thanks to the expert care I receive from experienced and knowledgeable doctors, I am able to lead a fulfilling and rewarding life.

"Right now, I am studying microbiology at the University of Georgia; I want to study medicine so that I can help people, just as others have been able to help me. My goal is to study hematology, concentrating on blood diseases. Eventually, I would really like to travel the world and treat patients in places where blood disorders like thalassemia are especially prevalent.
"Giving back to others is something I've learned from my own family. I would never have been able to handle all of the challenges associated with thalassemia had I not had a family that was willing to seek out the information that we needed and the medical care that we needed to deal with such a demanding disorder. And they have always been willing to give up a lot of their time to make sure I can stay healthy. Now I hope to one day be able to help others who face difficult medical challenges. I think that knowing from my own experience what they have to go through will help me to better help them."

Inspirational story

My Story. (2015, February 17). Retrieved November 24, 2015, from http://www.cdc.gov/NCBDDD/thalassemia/stories.html
What Are Thalassemias? (n.d.). Retrieved November 24, 2015, from http://www.nhlbi.nih.gov/health/health-topics/topics/thalassemia
Full transcript