Skip to content
How It Works
Explore
Resources Ask a Question
Who It's For
Patients
Decode results, prep for appointments, weigh options.
Caregivers & advocates
Carry the research load for someone you love.
Providers & clinicians
Resources for patients in your practice.
Log In Ask a Question
PubMed This is a summary of 25 peer-reviewed journal articles Updated
Dermatology

Why Are Blood Tests Required for an Albinism Diagnosis?

At a Glance

Doctors require blood tests during an oculocutaneous albinism diagnosis to rule out rare, syndromic forms of the condition like Hermansky-Pudlak and Chediak-Higashi syndromes. These tests check for hidden bleeding disorders and immune deficiencies to ensure safe medical care.

In this answer

4 sections

01

The Hidden Risks of Syndromic Albinism

02

What Are the Doctors Looking For?

03

Staying Safe While Waiting for Results

04

Looking Ahead: Long-Term Care

When a child is diagnosed with oculocutaneous albinism (OCA), it is natural to wonder why doctors order blood tests for a condition that seems to only affect the skin, hair, and eyes. The reason is that while most forms of albinism are “non-syndromic” (affecting only pigmentation), there are rare “syndromic” forms of albinism that affect other body systems, including the blood and immune system. Doctors use blood tests to rule out these very rare conditions—most notably Hermansky-Pudlak Syndrome (HPS) and Chediak-Higashi Syndrome (CHS)—to ensure your child is safe during medical procedures and gets the right preventative care. Standard, non-syndromic OCA is by far the most common diagnosis, but because these rarer syndromes require immediate medical awareness, ruling them out is standard protocol.

The Hidden Risks of Syndromic Albinism

While most people with albinism have normal health otherwise, syndromic forms include additional complications.

Hermansky-Pudlak Syndrome (HPS) involves a bleeding disorder called a platelet storage pool deficiency [1][2]. People with HPS lack specific structures inside their blood cells called dense granules, which are necessary for blood to clot properly [3][4]. They may bruise easily, have frequent nosebleeds, or experience severe, uncontrolled bleeding during surgery, dental work, or after a major injury [5][6]. Because HPS must be considered in any child showing signs of albinism, checking the blood early prevents severe hemorrhagic complications later [7][8].

Chediak-Higashi Syndrome (CHS) affects the immune system [9]. Children with CHS have a primary immunodeficiency that makes them highly susceptible to severe, recurrent infections [9][10].

What Are the Doctors Looking For?

To distinguish between standard oculocutaneous albinism and these rare syndromic forms, doctors typically run specialized tests from a single blood draw. (Note: While genetic testing can sometimes be done with a cheek swab, a blood sample is still required to physically examine the blood cells. A routine blood draw itself is safe, even if a bleeding disorder is present.)

  • Genetic Testing: This is the primary way to establish a definitive diagnosis, identify the specific subtype of albinism, and confirm whether it is syndromic or non-syndromic [11][12].
  • Platelet Electron Microscopy (EM): This highly specialized test looks at blood platelets under a powerful microscope to count the “dense granules.” An absence or severe reduction of these granules is a hallmark sign of Hermansky-Pudlak Syndrome [3][13]. This provides direct visual evidence of a bleeding disorder before the child experiences a bleeding event [13][14].
  • Platelet Function Tests: These evaluate how well the blood cells stick together to form a clot [2][15].
  • Peripheral Blood Smear: To check for Chediak-Higashi Syndrome, doctors look at white blood cells under a microscope to spot characteristic giant granules (large structures inside the cells), which confirm the diagnosis [16][17].

Staying Safe While Waiting for Results

Specialized genetic testing or electron microscopy can take several weeks to process. During this waiting period, it is crucial to act out of an abundance of caution:

  • Delay Elective Procedures: Postpone elective surgeries (like circumcision), routine dental work, or any non-urgent medical procedures until you have the results confirming whether a bleeding disorder is present.
  • Consult Before Medication: Avoid giving your child medications that thin the blood, like ibuprofen or aspirin, without clearing it with your pediatrician first.

Looking Ahead: Long-Term Care

Identifying the exact type of albinism dictates what kind of doctors need to be on your child’s care team [18][15].

  • If testing shows standard non-syndromic OCA, your child will primarily need a dermatologist (for skin cancer prevention) and an ophthalmologist (for vision care).
  • If testing reveals Hermansky-Pudlak Syndrome, the care team will expand to include a hematologist (blood specialist) to manage bleeding risks [19]. Some types of HPS also carry risks for progressive lung disease (pulmonary fibrosis) and inflammatory bowel disease, requiring a pulmonologist and gastroenterologist for regular monitoring [20][21][22].
  • If testing reveals Chediak-Higashi Syndrome, the care team will include an immunologist and hematologist to manage the immune deficiency [23]. Long-term care often involves critical treatments to correct the immune system, such as a bone marrow or stem cell transplant [24][25].

By doing these blood tests early, your medical team ensures that if an underlying condition exists, they are fully prepared to keep your child safe.

Common questions in this guide

Why does my child need a blood test for an albinism diagnosis?
Doctors order blood tests to rule out rare syndromic forms of albinism, like Hermansky-Pudlak and Chediak-Higashi syndromes. These conditions can cause hidden bleeding disorders or immune deficiencies that require special medical precautions and specialized care teams.
What are doctors looking for in an albinism blood test?
Specialists use platelet electron microscopy to look for missing dense granules in blood cells, which indicates a bleeding disorder. They also examine a blood smear to check for giant granules in white blood cells, a sign of immune system issues.
Should we delay surgeries while waiting for albinism blood test results?
Yes, it is highly recommended to postpone elective surgeries, such as circumcision, and routine dental work until the test results come back. This precaution prevents unexpected and severe bleeding complications if a bleeding disorder is present.
Can my child take pain medication while waiting for the test results?
You should avoid giving your child blood-thinning medications like ibuprofen or aspirin until the results confirm there is no bleeding disorder. Always clear any medication, including over-the-counter pain relievers, with your pediatrician first.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Are we testing for standard oculocutaneous albinism, or are we also running specific panels for Hermansky-Pudlak and Chediak-Higashi syndromes?
  2. 2.Will the blood tests include platelet electron microscopy and a blood smear, or are we relying solely on genetic testing?
  3. 3.How long will it take to get the specialized blood and genetic test results back?
  4. 4.What specific bleeding or infection precautions should we take while we wait for the results?
  5. 5.If my child needs a procedure or surgery before the results return, what safety measures will the surgical team take?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

Related questions

Can Surgery Fix Vision Loss in Albinism?Can Hair & Eye Color Change Over Time in Albinism?Can People With Oculocutaneous Albinism Drive a Car?Does Oculocutaneous Albinism Affect Life Expectancy?Does Oculocutaneous Albinism Cause Complete Blindness?Do People with Oculocutaneous Albinism Need Vitamin D?How Is Oculocutaneous Albinism Inherited?How Often Do Albinism Patients Need Eye and Skin Exams?How to Manage the Social Impact of Albinism in ChildrenWhat Causes Nystagmus in Albinism & Can It Be Treated?What Does Amelanotic Melanoma Look Like in Albinism?What Is the Best Sunscreen for Oculocutaneous Albinism?What School Accommodations Are Needed for Albinism?

References

References (25)
  1. 1

    The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecological settings: A systematic review.

    Obeng-Tuudah D, Hussein BA, Hakim A, et al.

    International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2021; (154(3)):412-426 doi:10.1002/ijgo.13632.

    PMID: 33521972
  2. 2

    Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.

    Han CG, O'Brien KJ, Coon LM, et al.

    American journal of medical genetics. Part A 2018; (176(12)):2819-2823 doi:10.1002/ajmg.a.40514.

    PMID: 30369044
  3. 3

    Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.

    O'Brien KJ, Lozier J, Cullinane AR, et al.

    Molecular genetics and metabolism 2016; (119(3)):284-287 doi:10.1016/j.ymgme.2016.08.009.

    PMID: 27641950
  4. 4

    Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

    Bryan MM, Tolman NJ, Simon KL, et al.

    Molecular genetics and metabolism 2017; (120(4)):378-383 doi:10.1016/j.ymgme.2017.02.007.

    PMID: 28259707
  5. 5

    Hermansky-Pudlak Syndrome Type 2: A Case Report on an Ultra-Rare Disorder.

    Alasmari BG, Wafa S, Tahir AM, et al.

    Cureus 2024; (16(7)):e65114 doi:10.7759/cureus.65114.

    PMID: 39171069
  6. 6

    A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.

    Andres O, Wiegering V, König EM, et al.

    Pediatric blood & cancer 2017; (64(5)) doi:10.1002/pbc.26320.

    PMID: 27917594
  7. 7

    Unexpected intra-operative bleeding due to Hermansky-Pudlak Syndrome.

    Ozgur M, Yilmaz B

    Indian journal of anaesthesia 2015; (59(6)):393-4 doi:10.4103/0019-5049.158784.

    PMID: 26195845
  8. 8

    Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.

    Arcot Sadagopan K, Teng CH, Hui G, Lin DL

    Ophthalmic genetics 2023; (44(1)):54-69 doi:10.1080/13816810.2022.2135109.

    PMID: 36316991
  9. 9

    Early diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear.

    Tajik S, Fazlollahi MR, Alizadeh Z, et al.

    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2024; (35(11)):e14264 doi:10.1111/pai.14264.

    PMID: 39485047
  10. 10

    Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome.

    Gil-Krzewska A, Murakami Y, Peruzzi G, et al.

    British journal of haematology 2017; (176(1)):118-123 doi:10.1111/bjh.14390.

    PMID: 27766632
  11. 11

    A multilayered approach to the analysis of genetic data from individuals with suspected albinism.

    Sergouniotis PI, Michaud V, Lasseaux E, et al.

    Journal of medical genetics 2023; (60(12)):1245-1249 doi:10.1136/jmg-2022-109088.

    PMID: 37460203
  12. 12

    Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

    Power B, Ferreira CR, Chen D, et al.

    Orphanet journal of rare diseases 2019; (14(1)):52 doi:10.1186/s13023-019-1023-7.

    PMID: 30791930
  13. 13

    A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome.

    Lansdon LA, Chen D, Rush ET, et al.

    Cold Spring Harbor molecular case studies 2021; (7(5)) doi:10.1101/mcs.a006110.

    PMID: 34362826
  14. 14

    Platelet δ-Storage Pool Disease: An Update.

    Dupuis A, Bordet JC, Eckly A, Gachet C

    Journal of clinical medicine 2020; (9(8)) doi:10.3390/jcm9082508.

    PMID: 32759727
  15. 15

    Novel mutation in two brothers with Hermansky Pudlak syndrome type 3.

    Sandrock-Lang K, Bartsch I, Buechele N, et al.

    Blood cells, molecules & diseases 2017; (67()):75-80 doi:10.1016/j.bcmd.2017.03.001.

    PMID: 28284561
  16. 16

    A case report of a Chediak-Higashi syndrome diagnosed by peripheral blood smear.

    Eskioglou S, Gheorghe LM, Tsagarakis NJ, et al.

    International journal of laboratory hematology 2024; (46(6)):994-996 doi:10.1111/ijlh.14329.

    PMID: 38887857
  17. 17

    Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review.

    Maaloul I, Talmoudi J, Chabchoub I, et al.

    Hematology/oncology and stem cell therapy 2016; (9(2)):71-5.

    PMID: 26254864
  18. 18

    NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.

    Wei A, Yuan Y, Bai D, et al.

    Pigment cell & melanoma research 2016; (29(6)):702-706 doi:10.1111/pcmr.12534.

    PMID: 27593200
  19. 19

    First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1.

    Kendir-Demirkol Y, Yeter B, Yararbaş K

    Molecular syndromology 2024; (15(3)):247-250 doi:10.1159/000536162.

    PMID: 38841328
  20. 20

    Hermansky-Pudlak Syndrome.

    De Jesus Rojas W, Young LR

    Seminars in respiratory and critical care medicine 2020; (41(2)):238-246 doi:10.1055/s-0040-1708088.

    PMID: 32279294
  21. 21

    Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.

    Doubková M, Trizuljak J, Vrzalová Z, et al.

    BMC pulmonary medicine 2019; (19(1)):178 doi:10.1186/s12890-019-0941-4.

    PMID: 31619213
  22. 22

    Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.

    Yang Q, Yi S, Li M, et al.

    BMC medical genetics 2019; (20(1)):106 doi:10.1186/s12881-019-0842-7.

    PMID: 31196117
  23. 23

    Chedíak-Higashi Syndrome: Hair-to-toe spectrum.

    Greene S, Soldatos A, Toro C, et al.

    Seminars in pediatric neurology 2024; (52()):101168 doi:10.1016/j.spen.2024.101168.

    PMID: 39622608
  24. 24

    HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - A PRESENTATION OF ACCELERATED PHASE OF CHEDIAK HIGASHI SYNDROME; CASE REPORT AND CLINICOPATHOLOGICAL REVIEW.

    Javed O, Kaleem B, Naveed S, et al.

    Journal of Ayub Medical College, Abbottabad : JAMC 2024; (36(2)):454-458 doi:10.555/JAMC-02-12731.

    PMID: 39610002
  25. 25

    Chediak-Higashi syndrome: Lessons from a single-centre case series.

    Carneiro IM, Rodrigues A, Pinho L, et al.

    Allergologia et immunopathologia 2019; (47(6)):598-603 doi:10.1016/j.aller.2019.04.010.

    PMID: 31477396

This page explains why blood tests are used during an albinism diagnosis for educational purposes only. Always consult your child's pediatrician or hematologist before making medical decisions or scheduling procedures.

Get notified when new evidence is published on Oculocutaneous albinism.

We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.