scholarly journals Prenatal Hemoglobinopathy Screening Practices: Areas for Improvement

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 2298-2298
Author(s):  
Scott Moerdler ◽  
Ellen Fraint ◽  
Ellen Silver ◽  
Siobhan M Dolan ◽  
Kafui A Demasio ◽  
...  
Keyword(s):  
African American ◽  
Family History ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Prenatal Screening ◽  
Sickle Cell Trait ◽  
Cell Disease ◽  
Black African ◽  
Screening Practices ◽  
History Of

Background: Sickle cell disease is one of the most common inherited red blood cell disorders, yet many are not aware of their carrier status (Treadwell, J Nat Med Assoc, 2006), which can lead to confusion around pregnancy and newborn diagnosis. Furthermore, data is emerging about the severe and life-threatening risks of sickle cell trait (Kark, NEJM, 1987 and Olaniran, Am J Nephro, 2019). The American College of Obstetricians and Gynecologists' guidelines recommend that pregnant women of African, Mediterranean and Southeast Asian descent be screened for hemoglobinopathies with a complete blood count (CBC) and hemoglobin electrophoresis (ACOG, Opinion #691, 2017). However, adherence to this practice and frequency of improper screening with Sickledex is unknown. Proper screening and counseling can impact families' knowledge and allow them to establish relationships with hematology providers earlier. Objectives: We sought to assess prenatal hemoglobinopathy screening practice patterns and methods of Obstetrics & Gynecology (OBGYN) and Family Medicine (FM) providers in the Tri-State regional area. Methods: A cross-sectional electronic survey was administered to OBGYN and FM practitioners from six tri-state area institutions using publicly available information and contacts at each institution. Questions focused on prenatal hemoglobinopathy screening practices using case scenarios with variations on parental trait status and ethnicities. Chi-square analyses were used to compare the two provider groups on categorical variables. Results: There were 167 total responses; 120 surveys were complete, of which 87 were OBGYN and 33 FM providers. Respondents were mainly faculty (69/120, 58%) and from academic medical centers (n=107). 42% of providers reported that they ask "76-100%" of their patients about a personal history of sickle cell disease or trait. When asked about the proportion of pregnant patients with a positive family history of a hemoglobinopathy, there was a significant difference between OBGYN and FM providers, with 95% of OBGYN providers responding that they screen "76-100%" of those patients as opposed to only 75% of FM providers screening with the same frequency (p=0.0034). When asked about screening practices for patients without a personal/family history of a hemoglobinopathy, OBGYN providers consistently screen more frequently (Figure 1). When analyzed by ethnic background, screening practices were significantly different only between the subspecialty providers who "always" or "often" screened for hemoglobinopathies in mothers of Asian descent (p=0.03). Over 73% of providers report that they "always" screen patients of Mediterranean, Asian, and Middle Eastern descent and 84% always screen patients of Black descent. Over 30% of all respondents said they would use Sickledex for screening in case scenarios for a Black/African American mother, even when it was already known that she is a sickle cell carrier. In cases where the mother's hemoglobinopathy status was unknown, over 80% of providers responded that they would "always" evaluate with a hemoglobin electrophoresis regardless of Black/African American or Mediterranean descent. In terms of referrals to Hematology, in a case where both parents have sickle cell trait 46% of providers would "never" refer that family to Hematology. Conclusion: This pilot survey highlights differences in the methods and likelihood of prenatal hemoglobinopathy screening based on the type of prenatal care provider. Screening differences can lead to variations in prenatal guidance, diagnostic procedures, informed decision-making and knowledge of families referred to pediatric hematology clinics. This is the first study analyzing prenatal screening for hemoglobinopathies in OBGYN and FM. This study demonstrates that not all prenatal providers adhere to existing ACOG recommendations regarding which patients to screen for hemoglobinopathies and suggests an actionable area in which to enhance education for prenatal providers. Specifically, providers need to be educated that the use of Sickledex is an inappropriate laboratory screening test, since it will not detect other hemoglobinopathies. Improving prenatal screening practices by collaborating with hematologists may increase adherence to guidelines and allow for earlier relationship building with hematology. Figure 1 Disclosures Manwani: GBT: Consultancy, Research Funding; Novartis: Consultancy; Pfizer: Consultancy.

Sickle Cell Disease

2018 ◽  
Author(s):  
Ann Ng ◽  
Erin S. Williams
Keyword(s):  
African American ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Sickle Cell Trait ◽  
Organ Damage ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
Systemic Involvement ◽  
History Of

Sickle cell anemia (sickle cell disease) is a common hemoglobinopathy with anywhere from 90,000 to 100,000 Americans affected. This chronic condition has a predominance in populations of African descent, occurring in approximately 1 out of 365 African American births, compared to 1 out of 16,300 Hispanic births. The sickle cell trait can be detected in 1 of 13 African American births. One of the most common complications associated with sickle cell anemia, vaso-occlusive crises by sickled cells, results in severe pain. Other issues associated with this condition include acute chest syndrome, lung infections, end organ damage, and stroke. With improvements in the management and prevention of pain crises, infection, and other systemic involvement, these patients are living longer, thus increasing the potential for surgical needs. Whether it is for routine surgeries or surgeries that are due to the natural history of the disease; the pediatric anesthesiologist must be knowledgeable of the management of these patients in order to prevent morbidity and mortality.

scholarly journals Advanced metastatic breast carcinoma in sickle cell disease

2019 ◽  
Vol 38 (2) ◽  
pp. 139
Author(s):  
Marcellinus Uchechukwu Nwagu ◽  
Ologo Thompson ◽  
Akinola Oyekemi
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Sickle Cell Disease ◽  
Early Diagnosis ◽  
Sickle Cell ◽  
Positive Family History ◽  
Metastatic Breast ◽  
Diagnosis And Treatment ◽  
Cell Disease ◽  
History Of

Background<br />Breast cancer is the leading cancer in women leading to over 400,000 deaths per year worldwide. It begins in the breast tissue and can metastasize to other organs if early diagnosis and treatment is not instituted. Women with sickle cell disease are usually spared from breast cancer and other solid tumours due to the tumoricidal effect of sickled erythrocytes. Breast cancers are rare among these group of patients. Despite its rare occurrence, this paper was to emphasize the need for breast cancer screening among female sickle cell disease patients who have positive family history of breast cancer.<br /><br />Case description<br />OO was a 30-year old woman with sickle cell disease who presented to the hospital one and half years ago with a seven months history of right breast swelling and pains. She had lost her mother to breast cancer about 15 years ago. Mammography and histology of breast biopsy confirmed diagnosis of invasive ductal carcinoma of the right breast. Financial constraint was a major challenge in managing this patient as she was unable to buy her chemotherapy. She developed features suggestive of metastasis such as seizures and hepatomegaly. She was stabilized and discharged home but we lost her to follow up. She died at home.<br /><br />Conclusion    <br />Breast cancer is rare among females with sickle cell disease; any of them with a family history should be routinely screened for early diagnosis and treatment.

Microsurgery in the Sickle Cell Trait Population: Is It Actually Safe?

2020 ◽  
pp. 1-2
Author(s):  
Michael Alperovich ◽  
Eric Park ◽  
Michael Alperovich ◽  
Omar Allam ◽  
Paul Abraham
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Free Flap ◽  
Near Infrared ◽  
Sickle Cell Trait ◽  
Cell Disease ◽  
Flap Transfer ◽  
Free Flap Transfer ◽  
Patient Reported ◽  
Deep Inferior Epigastric Perforator

Although sickle cell disease has long been viewed as a contraindication to free flap transfer, little data exist evaluating complications of microsurgical procedures in the sickle cell trait patient. Reported is the case of a 55-year-old woman with sickle cell trait who underwent a deep inferior epigastric perforator (DIEP) microvascular free flap following mastectomy. The flap developed signs of venous congestion on postoperative day two but was found to have patent arterial and venous anastomoses upon exploration in the operating room. On near-infrared indocyanine green angiography, poor vascular flow was noted despite patent anastomoses and strong cutaneous arterial Doppler signals. Intrinsic microvascular compromise or sickling remains a risk in the sickle cell trait population as it does for the sickle cell disease population. Just like in sickle cell disease patients, special care should be taken to optimize anticoagulation and minimize ischemia-induced sickling for patients with sickle cell trait undergoing microsurgery.

scholarly journals To Give or Not to Give: RhD Immunoglobulin for an RHD*39 Pregnant Woman with Sickle Cell Disease

2021 ◽  
pp. 1-5
Author(s):  
Justin E. Juskewitch ◽  
Craig D. Tauscher ◽  
Sheila K. Moldenhauer ◽  
Jennifer E. Schieber ◽  
Eapen K. Jacob ◽  
...  
Keyword(s):  
Pregnant Woman ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Pregnancy Termination ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
Childbearing Age ◽  
Procedural Complications ◽  
History Of ◽  
Chronic Hemolysis

Introduction: Patients with sickle cell disease (SCD) have repeated episodes of red blood cell (RBC) sickling and microvascular occlusion that manifest as pain crises, acute chest syndrome, and chronic hemolysis. These clinical sequelae usually increase during pregnancy. Given the racial distribution of SCD, patients with SCD are also more likely to have rarer RBC antigen genotypes than RBC donor populations. We present the management and clinical outcome of a 21-year-old pregnant woman with SCD and an RHD*39 (RhD[S103P], G-negative) variant. Case Presentation: Ms. S is B positive with a reported history of anti-D, anti-C, and anti-E alloantibodies (anti-G testing unknown). Genetic testing revealed both an RHD*39 and homozygous partial RHCE*ceVS.02 genotype. Absorption/elution testing confirmed the presence of anti-G, anti-C, and anti-E alloantibodies but could not definitively determine the presence/absence of an anti-D alloantibody. Ms. S desired to undergo elective pregnancy termination and the need for postprocedural RhD immunoglobulin (RhIG) was posed. Given that only the G antigen site is changed in an RHD*39 genotype and the potential risk of RhIG triggering a hyperhemolytic episode in an SCD patient, RhIG was not administered. There were no procedural complications. Follow-up testing at 10 weeks showed no increase in RBC alloantibody strength. Discussion/Conclusion: Ms. S represents a rare RHD*39 and partial RHCE*ceVS.02 genotype which did not further alloimmunize in the absence of RhIG administration. Her case also highlights the importance of routine anti-G alloantibody testing in women of childbearing age with apparent anti-D and anti-C alloantibodies.

scholarly journals Concurrent Bilateral Central Retinal Artery Occlusion Secondary to Sickle Cell Crisis

2021 ◽  
Vol 9 ◽  
pp. 232470962110283
Author(s):  
Gowri Renganathan ◽  
Piruthiviraj Natarajan ◽  
Lela Ruck ◽  
Roberto Prieto ◽  
Bharat Ved Prakash ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Vision Loss ◽  
Central Retinal Artery Occlusion ◽  
Retinal Artery Occlusion ◽  
Artery Occlusion ◽  
Cell Disease ◽  
Sickle Cell Crisis ◽  
History Of ◽  
Retinal Artery

Vascular occlusive crisis with a concurrent vision loss on both eyes is one of the most devastating disability for sickle cell disease patients. Reportedly occlusive crisis in the eyes is usually temporary whereas if not appropriately managed can result in permanent vision loss. A carefully managed sickle cell crisis could prevent multiple disabilities including blindness and stroke. We report a case of a 24-year-old female with a history of sickle cell disease who had acute bilateral vision loss during a sickle crisis and recovered significantly with a timely emergent erythrocytapheresis.

scholarly journals History of Pain is Associated with Hospitalization and Severe Course of COVID-19 in Children with Sickle Cell Disease

2021 ◽  
Vol 22 (5) ◽  
pp. 607-608
Author(s):  
Lana Mucalo ◽  
Amanda Brandow ◽  
Mahua Dasgupta ◽  
Sadie Mason ◽  
Pippa Simpson ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Cell Disease ◽  
History Of ◽  
History Of Pain

The natural history of sickle cell disease

1998 ◽  
Vol 10 (1) ◽  
pp. 49-52 ◽  
Author(s):  
Carolyn Hoppe ◽  
Lori Styles ◽  
Elliott Vichinsky
Keyword(s):  
Sickle Cell Disease ◽  
Natural History ◽  
Sickle Cell ◽  
Cell Disease ◽  
History Of

In Reply: Sports and Sickle Cell Trait

PEDIATRICS ◽  
1989 ◽  
Vol 83 (4) ◽  
pp. 650-651
Author(s):  
MICHAEL A. NELSON
Keyword(s):  
Sickle Cell Disease ◽  
Sudden Death ◽  
Sickle Cell ◽  
Sports Medicine ◽  
Sickle Cell Trait ◽  
Cell Disease ◽  
Variable Expression ◽  
Military Recruits ◽  
New Information ◽  
Athletic Activities

Sickle cell trait was included because, at that time, a great deal of speculation and new information was forthcoming regarding sudden death in military recruits who had sickle cell trait. The members of the Sports Medicine Committee believed that it was important to indicate that, in spite of these new concerns, there were no data to indicate that anyone with sickle cell trait should not be included in any athletic activities. Sickle cell disease was excluded because it is a disease with variable expression and one which is characterized by numerous exacerbations and periods of quiescence.

PATHOGENESIS OF HYPOSTHENURIA IN PERSONS WITH SICKLE CELL ANEMIA OR THE SICKLE CELL TRAIT

PEDIATRICS ◽  
1960 ◽  
Vol 26 (2) ◽  
pp. 249-254
Author(s):  
L. Schlitt ◽  
H. G. Keitel
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Renal Damage ◽  
Sickle Cell Trait ◽  
Urinary Concentration ◽  
Cell Disease ◽  
Renal Vessels

Hyposthenuria was investigated in subjects with sickle cell trait and in patients with sickle cell anemia. The following were observed: 1) in subjects with sickle cell trait both normal and reduced maxima of urinary concentration are found, whereas all untreated patients with sickle cell anemia over 6 months of age have hyposthenuria; 2) hyposthenuria becomes increasingly more severe with advancing age in both sickle cell anemia and sickle cell trait; 3) in a 6-month-old patient with sickle cell anemia and hyposthenuria, the maxima of urinary concentration returned to normal after two transfusions of normal erythrocytes. Reasons are presented for favoring the hypothesis that hyposthenuria in sickle cell disease is due to renal damage, possibly from intravascular sickling of erythrocytes in renal vessels or from the presence of "free" circulating S-hemoglobin.

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