PMID- 15819676
OWN - NLM
STAT- MEDLINE
DCOM- 20050510
LR  - 20050411
IS  - 0041-1132 (Print)
IS  - 0041-1132 (Linking)
VI  - 45
IP  - 4
DP  - 2005 Apr
TI  - Fetal-neonatal alloimmune thrombocytopenia and unexpected Glanzmann 
      thrombasthenia carrier: report of two cases.
PG  - 550-3
AB  - BACKGROUND: Discrepancy between phenotyping and genotyping during the 
      investigation of maternofetal alloimmunization leads to the identification of 
      defects on genes encoding membrane glycoproteins (GPs) IIb and IIIa. STUDY DESIGN 
      AND METHODS: Human platelet (PLT) alloantigen (HPA)-1 and -3 PLT phenotypes and 
      genotypes were performed by use of, respectively, the monoclonal 
      antibody-specific immobilization of PLT antigens and the polymerase chain 
      reaction (PCR)-sequence-specific priming techniques for up to 2400 families with 
      thrombocytopenic newborn. When a discrepancy was detected, genomic DNA from the 
      mother was amplified for coding sequences of either the GPIIb or GPIIIa genes. 
      The genetic abnormality responsible for the discrepancy was determined by direct 
      sequencing of the PCR products. RESULTS: Two cases of discrepancy were identified 
      among 2400 families tested. In the first case, Mother L, serologically assigned 
      as HPA-1b-homozygous, was genotyped HPA-1a/1b. In the second case, Mother S, 
      serogically defined HPA-3b-homozygous, was genotyped HPA-3a/3b. DNA sequence 
      analysis revealed for Mother L a T(1447)-->C a point mutation within exon 10 of 
      the GPIIIa gene and for Mother S a C(480)-->G point mutation within exon 4 of the 
      GPIIb gene. These mutations reported in Glanzmann thrombasthenia (GT) patients 
      account for nonexpression of the implicated allele on the PLT surface. Thus, the 
      mothers are GT carriers. Alloantibodies, hallmarks of immunization, were not 
      detected in the maternal serum samples. CONCLUSION: Although this situation is 
      rarely encountered, it is important to combine phenotyping and genotyping to 
      avoid false PLT typing assignation and erroneous diagnosis when alloimmunization 
      might occur.
FAU - Jallu, Vincent
AU  - Jallu V
AD  - INTS, Platelet Immunology Laboratory, Paris, France.
FAU - Bianchi, Frederic
AU  - Bianchi F
FAU - Kaplan, Cecile
AU  - Kaplan C
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Transfusion
JT  - Transfusion
JID - 0417360
RN  - 0 (Antigens, Human Platelet)
SB  - IM
MH  - Antigens, Human Platelet/genetics/immunology
MH  - Diagnostic Errors
MH  - Erythroblastosis, Fetal/diagnosis/genetics/immunology
MH  - Female
MH  - Genotype
MH  - Heterozygote
MH  - Humans
MH  - Infant, Newborn
MH  - Phenotype
MH  - Point Mutation
MH  - Pregnancy
MH  - Pregnancy Complications, Hematologic/diagnosis/immunology
MH  - Thrombasthenia/diagnosis/*genetics/*immunology
MH  - Thrombocytopenia/diagnosis/*genetics/*immunology
EDAT- 2005/04/12 09:00
MHDA- 2005/05/11 09:00
CRDT- 2005/04/12 09:00
PHST- 2005/04/12 09:00 [pubmed]
PHST- 2005/05/11 09:00 [medline]
PHST- 2005/04/12 09:00 [entrez]
AID - TRF04275 [pii]
AID - 10.1111/j.0041-1132.2005.04275.x [doi]
PST - ppublish
SO  - Transfusion. 2005 Apr;45(4):550-3. doi: 10.1111/j.0041-1132.2005.04275.x.