Dr. Kim Smith-Whitley on Sickle Cell Anemia

Details: Published on Tuesday, 11 December 2012 23:25; Written by Jackie Jones, BlackAmericaWeb.com

Got a question about sickle cell anemia? Text it to "646464" (OHOHOH).

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There is good news on the horizon in sickle cell research.

Researchers at The Children’s Hospital of Philadelphia (CHOP) are exploring a number of ways to stop the disease in its tracks and develop treatment options for young children diagnosed with the ailment.

A disease that primarily affects black Americans, sickle cell disease is caused by a recessive trait in which blood cells are crescent shaped, rather than flat discs. Patients often suffer painful attacks that affect the long bones and the chest and can last from several minutes to days at a time.

One in 12 Americans carry the sickle cell trait and 1 in every 375 black American babies are born with the disease.
Approximately 90,000 to 100,000 Americans live with the disease, according to Kim Smith-Whitley, M.D., director of the Sickle Cell Center and the Clinical Director of the Division of Hematology at CHOP.

There are several treatment options available, but the best to date has been bone marrow transplants, which cure the condition, but the procedure has a number of complicating risks and requires a perfect donor match.

Smith-Whitley has been studying the feasibility of long-term red cell transfusion therapy of at least 12 months for young children at moderate-to-high risk for severe complications of sickle cell disease and whether the therapy will reduce painful episodes and neurological complications.

Smith-Whitley’s clinical and research focus is on sickle cell survivorship: predicting and preventing long-term, chronic, and life-threatening complications of the disease. According to the CHOP website, she initiated two innovative programs at CHOP: a short-stay Hematology Acute Care Unit and the Blue Tie Tag program to recruit blood donors for pediatric transfusions. She was also recently named the Chief Medical Officer of the Sickle Cell Disease Association of America.

Several other projects are being conducted by Smith-Whitley’s colleagues, including one by pediatric and fetal surgeon Alan W. Flake, MD, director of the Center for Fetal Research at The Children’s Hospital of Philadelphia, has pioneered a prenatal procedure that would transplant the mother’s bone marrow stem cells into her developing fetus while the child is still in the womb, curing this devastating disease before the baby is even born. This research has shown success in animal studies and may progress to testing in clinical trials by 2015.

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Can you ask why most people with sickle cell seem mentally unstable?

People living with sickle cell disease have not been shown to have mental illness, in general, at a higher rate than the general population. There are many stressors that people with chronic illness experience. These individuals including individuals with sickle cell disease may experience depression more frequently.

What can we do for my DH with beta thal? What options are available?

If you are referring to beta thalassemia, the disease and not the trait, then there are treatments available depending on how severely the individual is affected by the disease. The Cooley's Anemia Foundation website (www.thalassemia.org) is an excellent resource. If the person has a type of sickle cell disease - sickle beta plus thalassemia - then they should seek medical care for sickle cell. For more information on sickle cell disease, the Sickle Cell Disease Association of America is an excellent resource - www.sicklecelldisease.org. If it's a child who is affected, the Children's Hospital of Philadelphia website (www.chop.edu) provides information on these blood disorders and provides the names of physicians who are experts in this field.

My sister died in 1997 from sickle cell, she was my only sibling to have the disease, how is that?

Sickle cell disease in an inherited condition - you must inherit two sickle genes or one sickle gene and a gene for another hemoglobin disorder (hemoglobin C, beta thalassemia) in order to have the disease. If you have sickle cell trait and your partner has a sickle cell trait or another hemoglobin disorder trait, doctors will tell you that genetically you have a 1 in 4 risk of having a child with sickle cell disease. But this concept does not predict the composition of the disease or trait in their children. For example, for an individual couple, all of their children may have the disease, the trait or normal hemoglobin.

What are other hemoglobin variants?

There are many, many hemoglobin variants but there are some in people of African descent that we see in individuals with sickle cell disease - hemoglobin C, hemoglobin D, beta thalassemia trait.

What is the age limit in which one is most likely to contract sickle cell? Is there a way to prevent contracting the disease?

You are either born with sickle cell disease or you are not. You cannot catch it as you would catch a common cold. This is a great deal of misunderstanding about this in our community so I'm pleased that you have raised this issue. If you were born after 2000, it is more likely that you were tested for sickle cell disease at birth but in some states newborn screening for sickle cell disease has been available since the early '90s. Many states test all newborns regardless of race.

There are options for couples at risk for having a child with sickle cell disease to have children without sickle cell disease. They should seek genetic counseling and preconception counseling. Many obstetricians/gynecologists can provide access to good information and referrals to counselors.

Does my trait have anything to do with my recent onset of anemia?
Individuals with sickle cell trait alone should not be anemic. However, other hemoglobinopathy traits such as alpha-thalassemia trait can make you mildly anemic.

Good morning I have a Sickle Cell Trait is it wise to donate blood?

Great question! I would like to clarify a myth about sickle cell trait and blood donation. Individuals with sickle cell trait CAN donate blood as long as they meet all of the other criteria for blood donation. I think that blood donation is a wonderful way to help our community. Your sickle cell trait alone does not make it risky for you to donate blood so from that standpoint it is not unwise.

I was diagnosed with sickle cell trait over 40 years ago but now at 48-years-old I've been experiencing frequent pains and numbing in my feet/fingers. I am 5’3, 136lbs & "in great health/shape.” Can these
feelings be attributed to my diagnosis?

Your symptoms are should not be related to sickle cell trait. However I would make sure that you had the appropriate testing for sickle cell disease - a hemoglobin electrophoresis. Sometimes, a milder form of sickle cell disease can be mistaken for sickle cell trait depending on how old you were when the testing was done and what type of testing was performed. Recurrent pain occurs in people with sickle cell disease.

I was recently told I have the sickle cell trait, anything I need to or can do to prevent the full development of the disease?
You are raising an excellent point. You cannot develop sickle cell disease from sickle cell trait. Sometimes people with sickle cell disease can be misdiagnosed as sickle cell trait but this is rare.

My husband says his kids do not have sickle cell and he and their mother have the trait. Are there any other cases of the kids not having sickle cell?

Yes, it is possible for two people with sickle cell trait to have children without sickle cell trait or the disease. These couples can have children with sickle cell trait, sickle cell disease and no trait or disease (normal hemoglobin). This is because individuals with sickle cell trait have two genes they can pass on to their children - one gene for normal adult hemoglobin and another for sickle cell trait. When the two normal hemoglobin genes combine then that child will have normal hemoglobin. When the two sickle cell genes combine, then that child will have sickle cell disease. However, when one sickle cell gene and one normal hemoglobin gene combine then that child will have sickle cell trait.

Dr. Day 2010 MLK Center Dallas