Can a polymorphism in the thalassemia gene and a heterozygote CFTR mutation cause acute pancreatitis?

Table 1 Laboratory values upon presentation to the pancreas outpatient clinic

Parameter	Unit	Value	Range
WBC	10E9/L	4.5	3.6-11.0
RBC	10E12/L	4.73	3.8-5.2
Hb	g/dL	14.8	12-16
Hct		43.9	35%-47%
MCV	fL	92.9	80-100
Na	mmol/L	139	135-144
K	mmol/L	4.28	3.5-5.2
Ca	mol/L	2.18	2.25-2.60
Albumin	g/L	36.4	35-52
Blood glucose	mg/dL	74	70-115
Bilirubin (total)	mg/dL	0.31	0.2-1.4
Uric acid	mg/dL	3.2	2.5-5.7
Cholesterol	mg/dL	173	130–260
Triglycerides	mg/dL	36	< 200
BUN	mg/dL	18.8	16.7-45.8
Creatinine	mg/dL	0.7	0.6-1.1
Alkaline phosphatase	U/L	80	55-160
γGT	U/L	9	4-18
GPT/ASAT	U/L	5	5-19
GOT/ALAT	U/L	13	5-15
Cholinesterase	U/L	4238	2800-7400
HbA1C		1.51	1.2-4.6
Zinc	mmol/L	34	16-50
Amylase	U/L	183	25–115
Lipase	U/L	202	114-286
Chymotrypsin	U/g	14.7	> 6
Elastase-1	μg/g	985	> 200
HbF		0.92	< 0.5%
HbA		92.73	87%-94%
HbA2		2.14	1.6%-3.1%
Anomalous Hb		Not detectable
ALA	μmol/d	24	2-49
Porphobilinogen	μmol/d	6.6	0.5-7.5
Total porphyrines	μg/d	41.7	< 145

WBC: White blood cells; RBC: Red blood cells; Hb: Hemoglobin; Hct: Hematocrit; MCV: Mean corpuscular volume; BUN: Blood urea nitrogen; GOT/ASAT: Glutamic oxaloacetic transaminase; GPT/ALAT: Glutamic pyruvic transaminase; HbA1c: Hemoglobin A1c; ALA: Alpha lipoic acid.

Table 2 Summary of key findings

Etiology	Parameter	Negative/normal	Positive	Finding
Metabolic parameters	TSH, PTH, α-AT, lipids	X
Immunological parameters	IgG/IgG4; AMA, ANA, ASMA, RF	X
Pancreatotrophic virus	Adenovirus, Coxsackie, CMV, EBV, hepatitis, HIV, measles, mumps, Rubella, VZV	X
Pancreatitis genetics-acinar	PRSS1, CTRC, SPINK1	X
Pancreatitis genetics-ductal	CFTR		X	c.2882T > C; p.M961T (ATG > ACC)
Hemoglobin	HBs		X	Elevated
HPFH	Ggamma-hemoglobin gene		X	-158 C → T (HPFH Swiss)
	Agamma-hemoglobin gene	X

HIV: Human immunodeficiency syndrome; ANA: Autoantibodies against nuclei; AMA: Autoantibodies against mitochondria; ASMA: Autoantibodies against smooth-muscle; CMV: Cytomegalovirus; EBV: Epstein-Barr virus; VZV: Varicella zoster virus; PTH: Parathyroid hormone; TSH: Thyroid-stimulating hormone; IgG: Immunoglobulin G; RF: Rheumatoid factor; PRSS1: Pancreatitis cationic trypsinogen; SPINK1: Serine protease inhibitor Kazal type 1; CTRC: Chymotrypsin C; CFTR: Cystic fibrosis transmembrane conductance regulator; HBs: Hepatitis B surface; HPFH: Hereditary persistence of fetal hemoglobin.