NHLBI Guidelines for the Screening and Diagnosis of SCD

Peter Salgo, MD: Let’s go back for a second because I really want to nail one more thing down before we go forward. How do you make this diagnosis? How do you diagnose sickle cell disease?

Biree Andemariam, MD: Well, in America it’s their newborn screening. All of the 50 states at this point screen all newborns.

Peter Salgo, MD: It’s a hemoglobin electrophoresis, yes?

Jane Hankins, MD, MS: HPLC [high performance liquid chromatography]. I think it’s mostly HPLC.

Biree Andemariam, MD: Mostly HPLC, right.

Jane Hankins, MD, MS: High performance liquid chromatography.

Biree Andemariam, MD: But in your office, if you happen to see an adult who you suspect has sickle cell disease and they weren’t previously diagnosed, either they were born before newborn screening occurred in the state in which they were born, or they came from another country, then commonly it’s a little bit easier to get a hemoglobin electrophoresis in most settings.

Peter Salgo, MD: So, I’m doing OK if I send that out on a grown-up.

Biree Andemariam, MD: I think so.

Jane Hankins, MD, MS: I guess it depends on the laboratory. My institution, if I order hemoglobin identification, it will be an HPLC mostly, but yes, you can do an electrophoresis.

Elliot Vichinsky, MD: I think one of the points is first the screening test for sickle cell that some hospitals have, like the sickle cell prep or the solubility test, do not diagnose sickle cell disease. They may pick up a trait but they’re not specific. In addition, the disease characteristics in terms of whether there’s sickle cell anemia, sickle-beta thalassemia, sickle HPFH [hereditary persistence of fetal hemoglobin], or 1 or more benign types, needs somebody to really interpret the electrophoresis and do it right. Because you will open the door with a single electrophoresis, but you may not have a definitive diagnosis.

Peter Salgo, MD: Fair enough. Then we come to the NHLBI [National Heart, Lung, and Blood Institute] recommendations from looking at some of these other problems, not just pain—stroke, cardiopulmonary complications, retinopathy. How do you, in an ongoing manner, monitor for all of this?

Sophie Lanzkron, MD, MHS: There are NHLBI guidelines that were released in 2014 that address some really key issues like how to use hydroxyurea. And some of these guidelines are being updated by the American Society of Hematology, and those will come out in the next few months about cardiopulmonary disease, transfusions, pain, CNS [central nervous system] disease, will all be addressed by the American Society of Hematology guidelines.

Peter Salgo, MD: All right. Let’s take a look then, for our purposes. We’re not on a heart/lung committee at this point. We’re right here with us. No one is else is watching, so you can share with me. Your secret’s safe. What are the goals of therapy when you’re treating somebody with sickle cell disease? What are your goals of therapy?

Jane Hankins, MD, MS: I would say 2 main things. Broadly, you want to improve the quality of life and then you want to improve the quantity of life. People want to live longer, and they want to live better, in general.

Peter Salgo, MD: By the way, those 2 things are not mutually exclusive.

Jane Hankins, MD, MS: Correct.

Peter Salgo, MD: And if you’re living longer but worse, that may not be the greatest thing.

Jane Hankins, MD, MS: That’s correct. You want to live longer and better and well.

Peter Salgo, MD: All right. What are these guidelines recommending then? We said that there are guidelines out there. Are there specifics that the National Heart, Lung, and Blood Institute are recommending that are really fundamental to dealing with…?

Elliot Vichinsky, MD: I think the key thing about sickle cell disease, like any multi-organ severe disease, preventive intervention will change and modify the clinical course. And what happens for sickle cell often, they don’t get preventive monitoring or early intervention that may modify their progression to organ failure. So, if you take each one of these organs, you can then intervene using tests or other kinds of examinations that will predict or likely predict their progression and intervene in a way that modifies their outcome.

Transcript edited for clarity.