Blood Cell Disorders
What are Blood Cell Disorders?
Blood cell disorders (Hemoglobinopathies) are inherited conditions that affect the number or shape of the red blood cells in the body. These conditions can be very different from one another. Some blood cell disorders can cause life-threatening symptoms, while others do not cause medical problems or even signs of the condition. Mild blood cell disorders may require no medical treatment. However, when severe cases are left untreated, they can cause a shortage of red blood cells (anemia), organ damage or even death. Fortunately, when severe blood cell disorders are identified and treated early in life, affected children often can lead healthy lives. Newborn screening will be performed on your baby prior to leaving the hospital, or within 5 days after a home birth. Newborn screening can identify an abnormal blood cell disorder result. Sickle cell disease, sickle cell anemia (HbSS), and hemoglobin SC disease (Hb S/C) are three blood cell disorders that are included in the newborn screening panel in Indiana.
What is Sickle Cell Disease (SCD)?
Sickle cell disease (SCD) is a group of inherited red blood cell disorders. Healthy red blood cells are round, and they move through small blood vessels to carry oxygen to all parts of the body. In someone who has SCD, the red blood cells become hard, sticky, and look like a C-shaped farm tool called a “sickle”. The sickle cells die early, which causes a constant shortage of red blood cells. Also, when they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other serious problems such infection, acute chest syndrome and stroke. The CDC estimates that SCD occurs among about 1 out of every 365 Black or African-American births and about 1 out of every 16,300 Hispanic-American births.
What is Sickle Cell Anemia (HbSS)?
Sickle cell anemia (HbSS) is a type of sickle cell disease and an inherited condition of the blood. People who have this form of sickle cell disease inherit two sickle cell genes (“S”), one from each parent. This is usually the most severe form of the disease. In a healthy person, red blood cells are a round, donut shape. In a person affected by HbSS some of the red blood cells are a crescent or sickle shape. These abnormally shaped cells do not live if normal red blood cells and tend to get stuck in blood vessels where they can block the flow of blood to certain parts of the body. If the condition is left untreated, it can cause a shortage of red blood cells (anemia), organ damage, or even death. However, if HbSS is identified and treated early in life, individuals often can lead healthier lives.
What is Hemoglobin SC Disease (Hb S/C)?
Hemoglobin SC Disease is a type of sickle cell disease, which is an inherited blood disorder that affects more than 70,000 Americans, mostly of African descent. It causes severe pain, organ damage and sometimes early death. The condition arises from a genetic defect that alters the structure of hemoglobin, the oxygen-carrying protein found in red blood cells. The long-term outlook for people affected by hemoglobin SC disease can vary depending on the severity of symptoms. Some patients are minimally affected by the condition while others have more serious complications and require blood transfusions. HbSC disease increases the risk of developing proliferative sickle cell retinopathy. Without close monitoring by an ophthalmologist, this condition can lead to vision loss.
Information Courtesy of Baby’s First Test
Information Courtesy of The Centers for Disease Control and Prevention
What Does it Mean to be a Carrier of Sickle Cell Disease?
Sickle cell carrier occurs when a person has one gene for sickle hemoglobin and one gene for normal hemoglobin. People with a sickle cell carrier usually do not have any of the symptoms of sickle cell disease (SCD), but they can pass the trait on to their children.
What Does a Positive HbSS or HbSC on the Newborn Screening Mean?
Newborn screening can identify an abnormal blood cell disorder result. If the result is abnormal, further testing will be arranged for confirmation. It is important that the additional testing is performed in a timely manner in order to ensure that the baby receives proper treatment. Early treatment of these conditions can make all the difference in the long-term health outcomes for each baby.
Information for Families
Newborn screening consists of Heel Stick / Bloodspot Screening. Before every baby goes home from the nursery, he or she has a small amount of blood taken from his or her heel. This is called the heel stick. The blood is collected on the newborn screening card and referred to as the dried blood spot (DBS) sample. The DBS sample that is collected is used to screen for over 50 rare genetic conditions. If anything, concerning is found, the Newborn Screening Laboratory contacts the baby’s doctor.
Information for Providers
It is the responsibility of the physician or midwife, whoever oversees the birth, to educate the family about the importance of each of the three (3) screens, and ensure the family is referred to have the screens performed. In the case that the family wishes to refuse one, two, or all three of the screens, it is the responsibility of the physician or midwife to have the parents complete and sign a Religious Waiver and enter this as an exception within your MSR (upload the completed Religious Waiver within the exception when prompted). Midwives, doulas, and other birth attendants are required by the state of Indiana to ensure newborn screening occurs and is reported to IDOH GNBS for each infant delivered. This means every midwife must be set up to submit Monthly Summary Reports (MSRs) in INSTEP.
For more information about MSRs, contact the Genomics and Newborn Screening Program by calling us at 888-815-0006 or emailing us at ISDHNBS@isdh.in.gov.
If you need help with newborn screening, contact the Genomics and Newborn Screening Program by calling us at 888-815-0006 or emailing us at ISDHNBS@isdh.in.gov.
Resources for Families
- Research at Harvard Medical School
- Medicine Plus - National Library of Medicine
- National Genome Research Institute
Page last revised on 02/03/2022 by DWard