This post is adapted for the Health & Medical Case Studies created by the Master of Medical Biotechnology program of the University of Windsor. This work licensed under a Creative Commons Attribution-NonCommercial (CC BY-NC-ND) 4.0 International License.
21 Case 1-2017: A newborn boy with post-circumcisional bleeding
A Case of Hemophilia A Presenting in a Neonate and a Review of the Literature. Global Pediatric Health, 2017, 4, 2333794X1769311. doi: 10.1177/2333794x17693110
Kisseih, E., Yerrapotu, N., Yadav, D., & February, M.
Case Summary 1
A newborn boy was circumcised on his second day of life. Profuse bleeding occurred post circumcision with frenulum tears. Bleeding worsened within 5 hours, leading to three changes of pressure dressings . During this time, the patient experienced prolonged bleeding from prior heel sticks. Lab investigations revealed prolonged partial thromboplastin time, lower fibrinogen levels of 3 mg/dL (186-486 mg/dL), factor VIII levels <1%, Factor IX level 9%. On further questioning of the family, it became apparent that the maternal grandfather had a similar bleeding disorder.
Learning Objectives
- Understanding the presentation of neonatal bleeding disorders and selecting appropriate investigations to suggest a diagnosis.
- Discuss the common clinical laboratory tests used to assess bleeding disorders.
- Familiarizing and defining new medical terminology associated with hereditary bleeding disorders.
Clinical History 1
- Age: Neonate 2 days-old
- Sex: Male
Birth History 1
- Vaginal delivery at 40 weeks gestation. Pregnancy was unremarkable.
- APGAR scores 9 at 1 and 5 minutes, with no complications.
Drug History 1
- 1mg Vit K injection at birth.
Symptoms 1
- Bleeding from post-circumcision frenulum tears.
Examinations (Clinical Assays/Tests/Imaging) 1
Birth Parameters 1
- Birth weight: 2.94 kg, the
- Birth length: 50 cm
- Head circumference: 34 cm
- “Examination revealed a small for gestational age (SGA) baby with caput succedaneum and an extra digit on the right hand”.
Blood Investigations 1
- White cell count: 11.5 k/mm3 (normal ranges: 9,000 to 30,000/mm3)5
- Hemoglobin: 21.7 gm/Dl (normal ranges: 14 to 24 g/dL)6
- Hematocrit: 61.3% (normal ranges: 55% to 68%)7
- Platelet count: 32 k/mm3; on repeat, platelets-183 k/mm3 (normal ranges: 150-450 k/mm3)4
- Blood Group: B positive.
- Partial thromboplastin time: >200 seconds (normal ranges: 23.1-33.1)1
- D-dimer: >35.2mg/L (normal ranges: 0.025-.5)3
- Fibrinogen level: 103 mg/dL (normal ranges: 186-486 mg/dL)1
- Factor VIII level: <1% (normal ranges: 50%-100%)2
- Factor IX activity: 9% (normal ranges: 50%-100%)2
- Von Willebrand factor activity level 134% (normal ranges: 43% to 138%)1
- Von Willebrand antigen:102% (normal ranges: 60% to 153%)1
- Platelet function testing with screening epinephrine : 119 seconds (normal ranges: 100-163)1
- Platelet factor ADP:78 seconds (normal ranges: 57-114)1
Question & Answers Leading to Diagnosis:
Question 1: Based on the infant’s symptoms and family history, what investigation(s) would confirm the correct diagnosis?
Question 2: What are the potential differential diagnoses?Associate the lab results with each of differential diagnoses.
Question 3: How would the medical history of the maternal grandfather correlate to the patient’s diagnosis? For which sex group is this disease most prominent?
** For answers please check the next chapter.
Medical terminology/Abbreviations:
- X-linked recessive – X-linked recessive inheritance refers to genetic conditions associated with mutations in genes on the X chromosome. A male carrying such a mutation will be affected because he carries only one X chromosome. A female carrying a mutation in one gene, with a normal gene on the other X chromosome, is generally unaffected.19
- Circumcision – Circumcision is the surgical removal of the skin covering the tip of the penis.8
- Frenulum – Elastic band of tissue under the glans penis.9
- APGAR score – The Apgar score is a scoring system that assesses newborn babies’ well-being using five different factors: heart rate, breathing, muscle tone, reflexes, and skin colour. Apgar is a quick test performed on a baby at 1 and 5 minutes after birth. The 1-minute score determines how well the baby tolerated the birthing process. The 5-minute score tells the health care provider how well the baby is doing outside the mother’s womb. score is based on a total score of 1 to 10. The higher the score, the better the baby is doing after birth. 10
- Pressure dressing – it is a pressure bandage that’s designed to apply pressure to a particular area of the body to prevent bleeding.11
- Hematocrit – The hematocrit is the proportion, by volume, of the blood that consists of red blood cells. For example, a hematocrit of 25% means that there are 25 milliliters of red blood cells in 100 milliliters of blood.7
- Partial thromboplastin time – Partial thromboplastin time (PTT) is a blood test that measures the time it takes blood to clot.16
- D-dimer – it is small protein fragment present in the blood after degradation of blood clot. D-dimer concentration help to diagnose thrombosis and intravascular coagulation.13
- Fibrinogen level – Fibrinogen is a plasma glycoprotein synthesized by the liver and is the major structural component of a clot.17
- Factor VIII – Essential clotting factor deficient in Hemophilia A.15
- Factor IX – Essential clotting factor deficient in Hemophilia B.15
- Von Willebrand factor – Von Willebrand factor is a glycoprotein that plays a key role in blood clotting. Deficiency of this factor leading to Von Willebrand disease.14
- Platelet function testing with screening epinephrine – The PFA is a screening test for platelet dysfunction. The cartridge membrane is coated with collagen, and with one of two platelet agonists (epinephrine or ADP). The platelets adhere to the collagen and aggregate in response to the collagen and epinephrine (or ADP).18
References
- Kisseih, E., Yerrapotu, N., Yadav, D., & February, M. (2017). A Case of Hemophilia A Presenting in a Neonate and a Review of the Literature. Global Pediatric Health, 4, 2333794X1769311. doi: 10.1177/2333794×17693110
- Diagnosis |Hemophilia| NCBDDD | CDC. (2021). Retrieved 8 April 2021, from https://www.cdc.gov/ncbddd/hemophilia/diagnosis.html
- Hudson, I., Gibson, B., Brownlie, J., Holland, B., Turner, T., & Webber, R. (1990). Increased concentrations of D-dimers in newborn infants. Archives Of Disease In Childhood, 65(4 Spec No), 383-384. doi: 10.1136/adc.65.4_spec_no.383
- Sillers, L., Van Slambrouck, C., & Lapping-Carr, G. (2015). Neonatal Thrombocytopenia: Etiology and Diagnosis. Pediatric Annals, 44(7), e175-e180. doi: 10.3928/00904481-20150710-11
- Parvez, Y., & Mathew, A. (2013). Hyperleukocytosis in Newborn: A Diagnosis of Concern. Indian Journal Of Hematology And Blood Transfusion, 30(S1), 131-132. doi: 10.1007/s12288-013-0286-8
- Encyclopedia, M. (2021). Hemoglobin: MedlinePlus Medical Encyclopedia. Retrieved 8 April 2021, from https://medlineplus.gov/ency/article/003645.htm
- Hematocrit Ranges and Chart: Test, High, Low, and Normal. (2021). Retrieved 8 April 2021, from https://www.medicinenet.com/hematocrit/article.htm.
- Circumcision (male) – Mayo Clinic. (2021). Retrieved 8 April 2021, from https://www.mayoclinic.org/tests-procedures/circumcision/about/pac-20393550
- Jessen, C. (2010). Can I just ask?. London: Hay House
- Encyclopedia, M., & score, A. (2021). Apgar score: MedlinePlus Medical Encyclopedia. Retrieved 8 April 2021, from https://medlineplus.gov/ency/article/003402.htm
- Pressure Bandage: How and When to Apply & Precautions. (2021). Retrieved 8 April 2021, from https://www.healthline.com/health/pressure-bandage
- (2021). Retrieved 27 April 2021, from https://www.mayoclinic.org/-/media/kcms/gbs/patient-consumer/images/2013/11/19/10/05/ds00549-x-linked-recessive-inheritance-pattern-with-carrier-mother.jpg
- Tasic N, Paixao T, Goncalves L (January 2020). “Biosensing of D-dimer, making the transition from the central hospital laboratory to bedside determination”. Talanta.207 (2): 120270. DOI:10.1016/j.talanta.2019.120270. PMID 19008457
- Baronciani, L., & Peyvandi, F. (2020). How we make an accurate diagnosis of von Willebrand disease. Thrombosis Research, 196, 579-589. doi: 10.1016/j.thromres.2019.07.010
- 6 Factor VIII Concentrates, Factor VIII/von Willebrand Factor Concentrates, Factor IX Concentrates, Activated Prothrombin Complex Concentrates. (2009). Transfusion Medicine And Hemotherapy, 36(6), 409-418. doi: 10.1159/000268062
- Partial Thromboplastin Time (PTT) Test | Michigan Medicine. (2021). Retrieved 27 April 2021, fromhttps://www.uofmhealth.org/healthlibrary/hw203152#:~:text=Partial%20thromboplastin%20time%20(PTT)%20is,blood%20to%20clot%20(coagulation).
- Kaur, J., & Jain, A. (2021). Fibrinogen. Retrieved 27 April 2021, from https://www.ncbi.nlm.nih.gov/books/NBK537184/
- Platelet Function Assay (PFA) Epinephrine/Collagen – Bloodworks Northwest. (2021). Retrieved 29 April 2021, from https://www.bloodworksnw.org/lab-test/pfa-epinephrine-collagen
- NCI Dictionary of Genetics Terms. (2021). Retrieved 27 May 2021, from https://www.cancer.gov/publications/dictionaries/genetics-dictionary/def/x-linked-recessive-inheritance
Further Reading
Creative Commons License
Circumcision is the surgical removal of the skin covering the tip of the penis.
Elastic band of tissue under the glans penis.
It is a pressure bandage that’s designed to apply pressure to a particular area of the body to prevent bleeding.
Partial thromboplastin time (PTT) is a blood test that measures the time it takes blood to clot.
Fibrinogen is a plasma glycoprotein synthesized by the liver and is the major structural component of a clot.
Essential clotting factor deficient in Hemophilia A.
Essential clotting factor deficient in Hemophilia B.
The Apgar score is a scoring system that assesses newborn babies’ well-being using five different factors: heart rate, breathing, muscle tone, reflexes, and skin colour. Apgar is a quick test performed on a baby at 1 and 5 minutes after birth. The 1-minute score determines how well the baby tolerated the birthing process. The 5-minute score tells the health care provider how well the baby is doing outside the mother's womb. score is based on a total score of 1 to 10. The higher the score, the better the baby is doing after birth.
The hematocrit is the proportion, by volume, of the blood that consists of red blood cells. For example, a hematocrit of 25% means that there are 25 milliliters of red blood cells in 100 milliliters of blood.
Thromboplastin (TPL) or thrombokinase is a mixture of both phospholipids and tissue factor found in plasma aiding blood coagulation through catalyzing the conversion of prothrombin to thrombin.
It is a small protein fragment present in the blood after the degradation of a blood clot. D-dimer concentration help to diagnose thrombosis and intravascular coagulation.
Fibrinogen (factor I) is a glycoprotein complex, produced in the liver, that circulates in the blood of all vertebrates.
Von Willebrand factor is a glycoprotein that plays a key role in blood clotting. Deficiency of this factor leading to Von Willebrand disease.
The PFA is a screening test for platelet dysfunction. The cartridge membrane is coated with collagen, and with one of two platelet agonists (epinephrine or ADP). The platelets adhere to the collagen and aggregate in response to the collagen and epinephrine (or ADP).